Canonical Allele Identifier: CA2872819

Gene: PACRGL

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.20727315C>A , CM000666.2:g.20727315C>A	GRCh38
NC_000004.11:g.20728938C>A , CM000666.1:g.20728938C>A	GRCh37
NC_000004.10:g.20338036C>A	NCBI36
NG_052969.1:g.1226437G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001258345.3:c.721C>A MANE Select	NP_001245274.1:p.Pro241Thr
ENST00000503585.6:c.721C>A MANE Select	ENSP00000423881.1:p.Pro241Thr
NM_001130727.1:c.346C>A	NP_001124199.1:p.Pro116Thr
NM_001130727.2:c.346C>A	NP_001124199.1:p.Pro116Thr
NM_001130727.3:c.346C>A	NP_001124199.1:p.Pro116Thr
NM_001258345.1:c.721C>A	NP_001245274.1:p.Pro241Thr
NM_001258345.2:c.721C>A	NP_001245274.1:p.Pro241Thr
NM_001258346.1:c.*20C>A	NP_001245275.1:n.*20C>A
NM_001258346.2:c.*20C>A	NP_001245275.1:n.*20C>A
NM_001258346.3:c.*20C>A	NP_001245275.1:n.*20C>A
NM_001317849.2:c.481C>A	NP_001304778.1:p.Pro161Thr
NM_001317849.3:c.481C>A	NP_001304778.1:p.Pro161Thr
NM_001330745.1:c.481C>A	NP_001317674.1:p.Pro161Thr
NM_001330745.2:c.481C>A	NP_001317674.1:p.Pro161Thr
NM_001330746.1:c.481C>A	NP_001317675.1:p.Pro161Thr
NM_001330746.2:c.481C>A	NP_001317675.1:p.Pro161Thr
NM_001330747.1:c.481C>A	NP_001317676.1:p.Pro161Thr
NM_001330747.2:c.481C>A	NP_001317676.1:p.Pro161Thr
NM_001330748.1:c.481C>A	NP_001317677.1:p.Pro161Thr
NM_001330748.2:c.481C>A	NP_001317677.1:p.Pro161Thr
NM_145048.3:c.640C>A	NP_659485.1:p.Pro214Thr
NM_145048.4:c.640C>A	NP_659485.1:p.Pro214Thr
NM_145048.5:c.640C>A	NP_659485.1:p.Pro214Thr
NR_047661.1:n.845C>A
NR_047661.2:n.845C>A
NR_047661.3:n.800C>A
NR_133933.1:n.969C>A
NR_133933.2:n.969C>A
ENST00000295290.12:c.640C>A	ENSP00000295290.8:p.Pro214Thr
ENST00000360916.9:c.640C>A	ENSP00000354171.4:p.Pro214Thr
ENST00000444671.6:c.346C>A	ENSP00000415832.2:p.Pro116Thr
ENST00000467997.6:c.640C>A	ENSP00000423477.1:p.Pro214Thr
ENST00000471979.6:c.721C>A	ENSP00000423914.2:p.Pro241Thr
ENST00000502374.5:c.*20C>A	ENSP00000425461.1:n.*20C>A
ENST00000502938.5:c.238C>A	ENSP00000424950.1:p.Pro80Thr
ENST00000503585.5:c.721C>A	ENSP00000423881.1:p.Pro241Thr
ENST00000506648.1:n.495C>A
ENST00000506702.5:c.640C>A	ENSP00000423536.1:p.Pro214Thr
ENST00000507634.5:c.640C>A	ENSP00000425938.1:p.Pro214Thr
ENST00000508952.5:c.*348C>A	ENSP00000425102.1:n.*348C>A
ENST00000513459.5:c.481C>A	ENSP00000426286.1:p.Pro161Thr
XM_011513780.1:c.*20C>A	XP_011512082.1:n.*20C>A
XM_011513781.1:c.*20C>A	XP_011512083.1:n.*20C>A
XM_011513782.1:c.*20C>A	XP_011512084.1:n.*20C>A
XM_011513783.1:c.*20C>A	XP_011512085.1:n.*20C>A
XM_011513784.1:c.*20C>A	XP_011512086.1:n.*20C>A
XM_011513785.1:c.*20C>A	XP_011512087.1:n.*20C>A
XM_011513786.1:c.865C>A	XP_011512088.1:p.Pro289Thr
XM_011513786.3:c.865C>A	XP_011512088.1:p.Pro289Thr
XM_011513787.1:c.*20C>A	XP_011512089.1:n.*20C>A
XM_011513788.1:c.*20C>A	XP_011512090.1:n.*20C>A
XM_011513789.1:c.*20C>A	XP_011512091.1:n.*20C>A
XM_011513790.1:c.*20C>A	XP_011512092.1:n.*20C>A
XM_011513791.1:c.*20C>A	XP_011512093.1:n.*20C>A
XM_011513792.1:c.*20C>A	XP_011512094.1:n.*20C>A
XM_011513793.1:c.*20C>A	XP_011512095.1:n.*20C>A
XM_011513794.1:c.*20C>A	XP_011512096.1:n.*20C>A
XM_011513795.1:c.*20C>A	XP_011512097.1:n.*20C>A
XM_011513796.1:c.*20C>A	XP_011512098.1:n.*20C>A
XM_011513797.1:c.*20C>A	XP_011512099.1:n.*20C>A
XM_011513797.3:c.*20C>A	XP_011512099.1:n.*20C>A
XM_011513798.1:c.*20C>A	XP_011512100.1:n.*20C>A
XM_011513798.2:c.*20C>A	XP_011512100.1:n.*20C>A
XM_011513799.1:c.*20C>A	XP_011512101.1:n.*20C>A
XM_011513800.1:c.*20C>A	XP_011512102.1:n.*20C>A
XM_011513801.1:c.784C>A	XP_011512103.1:p.Pro262Thr
XM_011513802.1:c.706C>A	XP_011512104.1:p.Pro236Thr
XM_011513803.1:c.*20C>A	XP_011512105.1:n.*20C>A
XM_011513804.1:c.*20C>A	XP_011512106.1:n.*20C>A
XM_011513805.1:c.640C>A	XP_011512107.1:p.Pro214Thr
XM_011513805.3:c.640C>A	XP_011512107.1:p.Pro214Thr
XM_011513806.1:c.*20C>A	XP_011512108.1:n.*20C>A
XM_011513807.1:c.*20C>A	XP_011512109.1:n.*20C>A
XM_011513808.1:c.*20C>A	XP_011512110.1:n.*20C>A
XM_011513809.1:c.490C>A	XP_011512111.1:p.Pro164Thr
XM_017007747.2:c.784C>A	XP_016863236.1:p.Pro262Thr
XM_017007748.2:c.721C>A	XP_016863237.1:p.Pro241Thr
XM_017007749.2:c.721C>A	XP_016863238.1:p.Pro241Thr
XM_017007750.1:c.*20C>A	XP_016863239.1:n.*20C>A
XM_017007751.2:c.640C>A	XP_016863240.1:p.Pro214Thr
XM_017007752.2:c.640C>A	XP_016863241.1:p.Pro214Thr
XM_017007753.2:c.640C>A	XP_016863242.1:p.Pro214Thr
XM_017007758.2:c.346C>A	XP_016863247.1:p.Pro116Thr
XM_017007759.2:c.346C>A	XP_016863248.1:p.Pro116Thr
XM_024453894.1:c.640C>A	XP_024309662.1:p.Pro214Thr
XM_024453896.1:c.562C>A	XP_024309664.1:p.Pro188Thr
XM_024453897.1:c.562C>A	XP_024309665.1:p.Pro188Thr
XM_024453898.1:c.427C>A	XP_024309666.1:p.Pro143Thr
XR_001741142.2:n.1194C>A
XR_001741143.2:n.1066C>A
XR_001741144.2:n.985C>A
XR_002959710.1:n.820C>A
XR_925302.1:n.1417C>A
XR_925302.2:n.1417C>A
XR_925303.1:n.1417C>A
XR_925303.3:n.1417C>A
XR_925305.1:n.1275C>A
XR_925305.2:n.1275C>A
XR_925306.1:n.1275C>A
XR_925306.2:n.1275C>A
XR_925307.1:n.1275C>A
XR_925308.1:n.1275C>A
XR_925312.1:n.964C>A