Canonical Allele Identifier: CA348405768

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186230T>C (hg19) ; chr2:g.127428654T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428654T>C , CM000664.2:g.127428654T>C	GRCh38
NC_000002.11:g.128186230T>C , CM000664.1:g.128186230T>C	GRCh37
NC_000002.10:g.127902700T>C	NCBI36
NG_016323.1:g.15235T>C , LRG_599:g.15235T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1094T>C MANE Select	ENSP00000234071.4:p.Ile365Thr
ENST00000234071.7:c.1094T>C	ENSP00000234071.3:p.Ile365Thr
ENST00000402125.2:c.418T>C
ENST00000409048.1:c.1196T>C	ENSP00000386679.1:p.Ile399Thr
NM_000312.3:c.1094T>C , LRG_599t1:c.1094T>C	NP_000303.1:p.Ile365Thr
XM_005263715.3:c.1277T>C	XP_005263772.1:p.Ile426Thr
XM_005263716.3:c.1259T>C	XP_005263773.1:p.Ile420Thr
XM_005263717.3:c.1157T>C	XP_005263774.1:p.Ile386Thr
XR_923313.1:n.1332-390A>G
XM_005263717.4:c.1157T>C	XP_005263774.1:p.Ile386Thr
XM_017004505.1:c.1337T>C	XP_016859994.1:p.Ile446Thr
XM_024453002.1:c.1439T>C	XP_024308770.1:p.Ile480Thr
XM_024453003.1:c.1379T>C	XP_024308771.1:p.Ile460Thr
XM_024453004.1:c.1277T>C	XP_024308772.1:p.Ile426Thr
XM_024453005.1:c.1259T>C	XP_024308773.1:p.Ile420Thr
XM_024453006.1:c.1196T>C	XP_024308774.1:p.Ile399Thr
XR_001739705.1:n.3607-390A>G
XR_923313.2:n.4043-390A>G
NM_000312.4:c.1094T>C MANE Select	NP_000303.1:p.Ile365Thr
NM_001375602.1:c.1277T>C	NP_001362531.1:p.Ile426Thr
NM_001375603.1:c.1259T>C	NP_001362532.1:p.Ile420Thr
NM_001375604.1:c.1157T>C	NP_001362533.1:p.Ile386Thr
NM_001375605.1:c.1196T>C	NP_001362534.1:p.Ile399Thr
NM_001375606.1:c.1262T>C	NP_001362535.1:p.Ile421Thr
NM_001375607.1:c.1280T>C	NP_001362536.1:p.Ile427Thr
NM_001375608.1:c.1037T>C	NP_001362537.1:p.Ile346Thr
NM_001375609.1:c.1070T>C	NP_001362538.1:p.Ile357Thr
NM_001375610.1:c.1088T>C	NP_001362539.1:p.Ile363Thr
NM_001375611.1:c.1094T>C	NP_001362540.1:p.Ile365Thr
NM_001375613.1:c.1094T>C	NP_001362542.1:p.Ile365Thr