Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986945A>G , CM000669.2:g.5986945A>G	GRCh38
NC_000007.13:g.6026576A>G , CM000669.1:g.6026576A>G	GRCh37
NC_000007.12:g.5993102A>G	NCBI36
NG_008466.1:g.27162T>C , LRG_161:g.27162T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*1216T>C	ENSP00000514615.2:n.*1216T>C
ENST00000699840.2:c.1817T>C	ENSP00000514638.2:p.Val606Ala
ENST00000699930.2:c.1712T>C	ENSP00000514695.2:p.Val571Ala
ENST00000406569.8:c.1678+142T>C	ENSP00000514464.1:n.1678+142T>C
ENST00000644110.2:c.*1414T>C	ENSP00000496392.2:n.*1414T>C
ENST00000699752.1:c.1664T>C	ENSP00000514561.1:p.Val555Ala
ENST00000699753.1:c.*1241T>C	ENSP00000514562.1:n.*1241T>C
ENST00000699754.1:c.1622T>C	ENSP00000514563.1:p.Val541Ala
ENST00000699755.1:c.*1219T>C	ENSP00000514564.1:n.*1219T>C
ENST00000699756.1:c.*1407T>C	ENSP00000514565.1:n.*1407T>C
ENST00000699757.1:c.*1077T>C	ENSP00000514566.1:n.*1077T>C
ENST00000699758.1:c.*1077T>C	ENSP00000514567.1:n.*1077T>C
ENST00000699759.1:n.2674T>C
ENST00000699760.1:c.1502T>C	ENSP00000514568.1:p.Val501Ala
ENST00000699761.1:c.1415T>C	ENSP00000514569.1:p.Val472Ala
ENST00000699762.1:c.1247T>C	ENSP00000514570.1:p.Val416Ala
ENST00000699763.1:c.*910T>C	ENSP00000514571.1:n.*910T>C
ENST00000699764.1:c.*138T>C	ENSP00000514572.1:n.*138T>C
ENST00000699765.1:c.*916T>C	ENSP00000514573.1:n.*916T>C
ENST00000699766.1:c.1820T>C	ENSP00000514574.1:p.Val607Ala
ENST00000699767.1:c.1820T>C	ENSP00000514575.1:p.Val607Ala
ENST00000699768.1:c.1820T>C	ENSP00000514576.1:p.Val607Ala
ENST00000699811.1:c.1415T>C	ENSP00000514614.1:p.Val472Ala
ENST00000699813.1:n.1933T>C
ENST00000699814.1:c.1443T>C
ENST00000699815.1:c.*1351T>C	ENSP00000514616.1:n.*1351T>C
ENST00000699816.1:c.*710T>C	ENSP00000514617.1:n.*710T>C
ENST00000699817.1:c.*1414T>C	ENSP00000514618.1:n.*1414T>C
ENST00000699818.1:c.1415T>C	ENSP00000514619.1:p.Val472Ala
ENST00000699819.1:c.*977T>C	ENSP00000514620.1:n.*977T>C
ENST00000699820.1:c.1144+2855T>C	ENSP00000514621.1:n.1144+2855T>C
ENST00000699821.1:c.1415T>C	ENSP00000514622.1:p.Val472Ala
ENST00000699822.1:c.*1272T>C	ENSP00000514623.1:n.*1272T>C
ENST00000699823.1:c.1415T>C	ENSP00000514624.1:p.Val472Ala
ENST00000699824.1:c.*1323T>C	ENSP00000514625.1:n.*1323T>C
ENST00000699825.1:c.1259T>C	ENSP00000514626.1:p.Val420Ala
ENST00000699826.1:c.*1219T>C	ENSP00000514627.1:n.*1219T>C
ENST00000699827.1:c.1652T>C	ENSP00000514628.1:p.Val551Ala
ENST00000699828.1:c.*910T>C	ENSP00000514629.1:n.*910T>C
ENST00000699833.1:n.3592T>C
ENST00000699837.1:c.1415T>C	ENSP00000514635.1:p.Val472Ala
ENST00000699838.1:c.*1720T>C	ENSP00000514636.1:n.*1720T>C
ENST00000699839.1:c.2006T>C	ENSP00000514637.1:p.Val669Ala
ENST00000699916.1:c.*1077T>C	ENSP00000514684.1:n.*1077T>C
ENST00000699917.1:c.*1269T>C	ENSP00000514685.1:n.*1269T>C
ENST00000699918.1:c.*1321T>C	ENSP00000514686.1:n.*1321T>C
ENST00000699919.1:c.*1407T>C	ENSP00000514687.1:n.*1407T>C
ENST00000699920.1:c.*1456T>C	ENSP00000514688.1:n.*1456T>C
ENST00000699928.1:c.989-3954T>C	ENSP00000514693.1:n.989-3954T>C
ENST00000699929.1:c.*1121T>C	ENSP00000514694.1:n.*1121T>C
ENST00000699930.1:c.1712T>C	ENSP00000514695.1:p.Val571Ala
ENST00000699931.1:n.3248T>C
ENST00000699951.1:c.*916T>C	ENSP00000514706.1:n.*916T>C
ENST00000699952.1:c.803+10381T>C	ENSP00000514707.1:n.803+10381T>C
ENST00000699953.1:c.*927T>C	ENSP00000514708.1:n.*927T>C
ENST00000699954.1:c.*1121T>C	ENSP00000514709.1:n.*1121T>C
ENST00000265849.12:c.1820T>C MANE Select	ENSP00000265849.7:p.Val607Ala
ENST00000642292.1:c.1415T>C	ENSP00000495524.1:p.Val472Ala
ENST00000642456.1:c.1415T>C	ENSP00000493814.1:p.Val472Ala
ENST00000643595.1:c.*1219T>C	ENSP00000494497.1:n.*1219T>C
ENST00000644110.1:c.1502T>C	ENSP00000496392.1:p.Val501Ala
ENST00000265849.11:c.1820T>C	ENSP00000265849.7:p.Val607Ala
ENST00000382321.5:c.804-3954T>C	ENSP00000371758.4:n.804-3954T>C
ENST00000406569.7:n.1678+142T>C
ENST00000441476.6:c.1502T>C	ENSP00000392843.2:p.Val501Ala
ENST00000469652.1:n.63-4040T>C
NM_000535.5:c.1820T>C , LRG_161t1:c.1820T>C	NP_000526.1:p.Val607Ala
NR_003085.2:n.1902T>C
XM_006715742.2:c.1814T>C	XP_006715805.1:p.Val605Ala
XM_006715744.2:c.887T>C	XP_006715807.1:p.Val296Ala
XM_011515427.1:c.1865T>C	XP_011513729.1:p.Val622Ala
XM_011515428.1:c.1709T>C	XP_011513730.1:p.Val570Ala
XM_011515429.1:c.1502T>C	XP_011513731.1:p.Val501Ala
XM_011515430.1:c.1502T>C	XP_011513732.1:p.Val501Ala
NM_000535.6:c.1820T>C	NP_000526.2:p.Val607Ala
NM_001322003.1:c.1415T>C	NP_001308932.1:p.Val472Ala
NM_001322004.1:c.1415T>C	NP_001308933.1:p.Val472Ala
NM_001322005.1:c.1415T>C	NP_001308934.1:p.Val472Ala
NM_001322006.1:c.1664T>C	NP_001308935.1:p.Val555Ala
NM_001322007.1:c.1502T>C	NP_001308936.1:p.Val501Ala
NM_001322008.1:c.1502T>C	NP_001308937.1:p.Val501Ala
NM_001322009.1:c.1415T>C	NP_001308938.1:p.Val472Ala
NM_001322010.1:c.1259T>C	NP_001308939.1:p.Val420Ala
NM_001322011.1:c.887T>C	NP_001308940.1:p.Val296Ala
NM_001322012.1:c.887T>C	NP_001308941.1:p.Val296Ala
NM_001322013.1:c.1247T>C	NP_001308942.1:p.Val416Ala
NM_001322014.1:c.1820T>C	NP_001308943.1:p.Val607Ala
NM_001322015.1:c.1511T>C	NP_001308944.1:p.Val504Ala
NR_136154.1:n.1907T>C
XM_006715744.4:c.887T>C	XP_006715807.1:p.Val296Ala
XM_017012342.2:c.887T>C	XP_016867831.1:p.Val296Ala
XM_024446800.1:c.1259T>C	XP_024302568.1:p.Val420Ala
NM_000535.7:c.1820T>C MANE Select	NP_000526.2:p.Val607Ala
NM_001322003.2:c.1415T>C	NP_001308932.1:p.Val472Ala
NM_001322004.2:c.1415T>C	NP_001308933.1:p.Val472Ala
NM_001322005.2:c.1415T>C	NP_001308934.1:p.Val472Ala
NM_001322006.2:c.1664T>C	NP_001308935.1:p.Val555Ala
NM_001322008.2:c.1502T>C	NP_001308937.1:p.Val501Ala
NM_001322009.2:c.1415T>C	NP_001308938.1:p.Val472Ala
NM_001322010.2:c.1259T>C	NP_001308939.1:p.Val420Ala
NM_001322011.2:c.887T>C	NP_001308940.1:p.Val296Ala
NM_001322012.2:c.887T>C	NP_001308941.1:p.Val296Ala
NM_001322013.2:c.1247T>C	NP_001308942.1:p.Val416Ala
NM_001322014.2:c.1820T>C	NP_001308943.1:p.Val607Ala
NM_001322015.2:c.1511T>C	NP_001308944.1:p.Val504Ala
NM_001322007.2:c.1502T>C	NP_001308936.1:p.Val501Ala

Linked Data

Genomic Alleles

Transcript Alleles