Canonical Allele Identifier: CA348405923

Gene: PROC

Linked Data

• dbSNP Id: rs780833999
• gnomAD v4: 2-127428691-G-C
• MyVariant Identifiers: chr2:g.128186267G>C (hg19) ; chr2:g.127428691G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428691G>C , CM000664.2:g.127428691G>C	GRCh38
NC_000002.11:g.128186267G>C , CM000664.1:g.128186267G>C	GRCh37
NC_000002.10:g.127902737G>C	NCBI36
NG_016323.1:g.15272G>C , LRG_599:g.15272G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1131G>C MANE Select	ENSP00000234071.4:p.Met377Ile
ENST00000234071.7:c.1131G>C	ENSP00000234071.3:p.Met377Ile
ENST00000402125.2:c.455G>C
ENST00000409048.1:c.1233G>C	ENSP00000386679.1:p.Met411Ile
NM_000312.3:c.1131G>C , LRG_599t1:c.1131G>C	NP_000303.1:p.Met377Ile
XM_005263715.3:c.1314G>C	XP_005263772.1:p.Met438Ile
XM_005263716.3:c.1296G>C	XP_005263773.1:p.Met432Ile
XM_005263717.3:c.1194G>C	XP_005263774.1:p.Met398Ile
XR_923313.1:n.1332-427C>G
XM_005263717.4:c.1194G>C	XP_005263774.1:p.Met398Ile
XM_017004505.1:c.1374G>C	XP_016859994.1:p.Met458Ile
XM_024453002.1:c.1476G>C	XP_024308770.1:p.Met492Ile
XM_024453003.1:c.1416G>C	XP_024308771.1:p.Met472Ile
XM_024453004.1:c.1314G>C	XP_024308772.1:p.Met438Ile
XM_024453005.1:c.1296G>C	XP_024308773.1:p.Met432Ile
XM_024453006.1:c.1233G>C	XP_024308774.1:p.Met411Ile
XR_001739705.1:n.3607-427C>G
XR_923313.2:n.4043-427C>G
NM_000312.4:c.1131G>C MANE Select	NP_000303.1:p.Met377Ile
NM_001375602.1:c.1314G>C	NP_001362531.1:p.Met438Ile
NM_001375603.1:c.1296G>C	NP_001362532.1:p.Met432Ile
NM_001375604.1:c.1194G>C	NP_001362533.1:p.Met398Ile
NM_001375605.1:c.1233G>C	NP_001362534.1:p.Met411Ile
NM_001375606.1:c.1299G>C	NP_001362535.1:p.Met433Ile
NM_001375607.1:c.1317G>C	NP_001362536.1:p.Met439Ile
NM_001375608.1:c.1074G>C	NP_001362537.1:p.Met358Ile
NM_001375609.1:c.1107G>C	NP_001362538.1:p.Met369Ile
NM_001375610.1:c.1125G>C	NP_001362539.1:p.Met375Ile
NM_001375611.1:c.1131G>C	NP_001362540.1:p.Met377Ile
NM_001375613.1:c.1131G>C	NP_001362542.1:p.Met377Ile