Canonical Allele Identifier: CA381655871

Gene: TPCN2

Linked Data

• gnomAD v4: 11-69078735-T-C
• MyVariant Identifiers: chr11:g.68846203T>C (hg19) ; chr11:g.69078735T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69078735T>C , CM000673.2:g.69078735T>C	GRCh38
NC_000011.9:g.68846203T>C , CM000673.1:g.68846203T>C	GRCh37
NC_000011.8:g.68602779T>C	NCBI36
NG_016153.1:g.34854T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692585.1:c.209T>C	ENSP00000509200.1:p.Val70Ala
ENST00000294309.8:c.1352T>C MANE Select	ENSP00000294309.3:p.Val451Ala
ENST00000635811.1:c.1352T>C	ENSP00000490341.1:p.Val451Ala
ENST00000637084.1:c.209T>C	ENSP00000490615.1:p.Val70Ala
ENST00000637342.1:c.1352T>C	ENSP00000490171.1:p.Val451Ala
ENST00000637504.1:c.1352T>C	ENSP00000489759.1:p.Val451Ala
ENST00000294309.7:c.1352T>C	ENSP00000294309.3:p.Val451Ala
ENST00000442692.2:n.945T>C
ENST00000535009.5:n.1161T>C
ENST00000542467.1:c.1352T>C	ENSP00000445551.1:p.Val451Ala
NM_139075.3:c.1352T>C	NP_620714.2:p.Val451Ala
XM_005273824.2:c.1349T>C	XP_005273881.1:p.Val450Ala
XM_005273826.2:c.1097T>C	XP_005273883.1:p.Val366Ala
XM_005273827.2:c.1352T>C	XP_005273884.1:p.Val451Ala
XM_005273828.2:c.1352T>C	XP_005273885.1:p.Val451Ala
XM_005273830.2:c.659T>C	XP_005273887.1:p.Val220Ala
XM_005273831.2:c.659T>C	XP_005273888.1:p.Val220Ala
XM_005273832.2:c.629T>C	XP_005273889.1:p.Val210Ala
XM_006718453.2:c.1352T>C	XP_006718516.1:p.Val451Ala
XM_006718454.2:c.1352T>C	XP_006718517.1:p.Val451Ala
XM_006718456.2:c.1352T>C	XP_006718519.1:p.Val451Ala
XM_011544802.1:c.1112T>C	XP_011543104.1:p.Val371Ala
XM_011544803.1:c.1352T>C	XP_011543105.1:p.Val451Ala
XM_011544804.1:c.1352T>C	XP_011543106.1:p.Val451Ala
XM_011544805.1:c.1352T>C	XP_011543107.1:p.Val451Ala
XM_011544806.1:c.1352T>C	XP_011543108.1:p.Val451Ala
XM_011544807.1:c.656T>C	XP_011543109.1:p.Val219Ala
XM_011544808.1:c.521T>C	XP_011543110.1:p.Val174Ala
XR_247191.1:n.1453T>C
XM_005273824.4:c.1349T>C	XP_005273881.1:p.Val450Ala
XM_005273826.4:c.1097T>C	XP_005273883.1:p.Val366Ala
XM_005273830.4:c.659T>C	XP_005273887.1:p.Val220Ala
XM_005273831.4:c.659T>C	XP_005273888.1:p.Val220Ala
XM_005273832.4:c.629T>C	XP_005273889.1:p.Val210Ala
XM_011544802.3:c.1112T>C	XP_011543104.1:p.Val371Ala
XM_011544807.3:c.656T>C	XP_011543109.1:p.Val219Ala
XM_011544808.3:c.521T>C	XP_011543110.1:p.Val174Ala
XM_017017328.2:c.1183T>C	XP_016872817.1:p.Cys395Arg
XM_017017329.2:c.1180T>C	XP_016872818.1:p.Cys394Arg
XM_017017330.2:c.629T>C	XP_016872819.1:p.Val210Ala
XM_017017331.2:c.629T>C	XP_016872820.1:p.Val210Ala
XM_017017332.2:c.443T>C	XP_016872821.1:p.Val148Ala
XM_017017333.2:c.460T>C	XP_016872822.1:p.Cys154Arg
XM_017017334.2:c.460T>C	XP_016872823.1:p.Cys154Arg
XM_017017335.2:c.460T>C	XP_016872824.1:p.Cys154Arg
XM_017017336.2:c.352T>C	XP_016872825.1:p.Cys118Arg
XM_024448392.1:c.1142T>C	XP_024304160.1:p.Val381Ala
XM_024448393.1:c.629T>C	XP_024304161.1:p.Val210Ala
XR_001747789.2:n.1284T>C
XR_001747790.2:n.1284T>C
XR_247191.3:n.1456T>C
NM_139075.4:c.1352T>C MANE Select	NP_620714.2:p.Val451Ala