Canonical Allele Identifier: CA348406356

Gene: PROC

Linked Data

• dbSNP Id: rs1269280926
• gnomAD v2: 2-128186367-C-T
• gnomAD v4: 2-127428791-C-T
• MyVariant Identifiers: chr2:g.128186367C>T (hg19) ; chr2:g.127428791C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428791C>T , CM000664.2:g.127428791C>T	GRCh38
NC_000002.11:g.128186367C>T , CM000664.1:g.128186367C>T	GRCh37
NC_000002.10:g.127902837C>T	NCBI36
NG_016323.1:g.15372C>T , LRG_599:g.15372C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1231C>T MANE Select	ENSP00000234071.4:p.His411Tyr
ENST00000234071.7:c.1231C>T	ENSP00000234071.3:p.His411Tyr
ENST00000402125.2:c.555C>T
ENST00000409048.1:c.1333C>T	ENSP00000386679.1:p.His445Tyr
NM_000312.3:c.1231C>T , LRG_599t1:c.1231C>T	NP_000303.1:p.His411Tyr
XM_005263715.3:c.1414C>T	XP_005263772.1:p.His472Tyr
XM_005263716.3:c.1396C>T	XP_005263773.1:p.His466Tyr
XM_005263717.3:c.1294C>T	XP_005263774.1:p.His432Tyr
XR_923313.1:n.1332-527G>A
XM_005263717.4:c.1294C>T	XP_005263774.1:p.His432Tyr
XM_017004505.1:c.1474C>T	XP_016859994.1:p.His492Tyr
XM_024453002.1:c.1576C>T	XP_024308770.1:p.His526Tyr
XM_024453003.1:c.1516C>T	XP_024308771.1:p.His506Tyr
XM_024453004.1:c.1414C>T	XP_024308772.1:p.His472Tyr
XM_024453005.1:c.1396C>T	XP_024308773.1:p.His466Tyr
XM_024453006.1:c.1333C>T	XP_024308774.1:p.His445Tyr
XR_001739705.1:n.3607-527G>A
XR_923313.2:n.4043-527G>A
NM_000312.4:c.1231C>T MANE Select	NP_000303.1:p.His411Tyr
NM_001375602.1:c.1414C>T	NP_001362531.1:p.His472Tyr
NM_001375603.1:c.1396C>T	NP_001362532.1:p.His466Tyr
NM_001375604.1:c.1294C>T	NP_001362533.1:p.His432Tyr
NM_001375605.1:c.1333C>T	NP_001362534.1:p.His445Tyr
NM_001375606.1:c.1399C>T	NP_001362535.1:p.His467Tyr
NM_001375607.1:c.1417C>T	NP_001362536.1:p.His473Tyr
NM_001375608.1:c.1174C>T	NP_001362537.1:p.His392Tyr
NM_001375609.1:c.1207C>T	NP_001362538.1:p.His403Tyr
NM_001375610.1:c.1225C>T	NP_001362539.1:p.His409Tyr
NM_001375611.1:c.1231C>T	NP_001362540.1:p.His411Tyr
NM_001375613.1:c.1231C>T	NP_001362542.1:p.His411Tyr