Canonical Allele Identifier: CA348406476

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186395T>C (hg19) ; chr2:g.127428819T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428819T>C , CM000664.2:g.127428819T>C	GRCh38
NC_000002.11:g.128186395T>C , CM000664.1:g.128186395T>C	GRCh37
NC_000002.10:g.127902865T>C	NCBI36
NG_016323.1:g.15400T>C , LRG_599:g.15400T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.1259T>C MANE Select	ENSP00000234071.4:p.Val420Ala
ENST00000234071.7:c.1259T>C	ENSP00000234071.3:p.Val420Ala
ENST00000402125.2:c.583T>C
ENST00000409048.1:c.1361T>C	ENSP00000386679.1:p.Val454Ala
NM_000312.3:c.1259T>C , LRG_599t1:c.1259T>C	NP_000303.1:p.Val420Ala
XM_005263715.3:c.1442T>C	XP_005263772.1:p.Val481Ala
XM_005263716.3:c.1424T>C	XP_005263773.1:p.Val475Ala
XM_005263717.3:c.1322T>C	XP_005263774.1:p.Val441Ala
XR_923313.1:n.1332-555A>G
XM_005263717.4:c.1322T>C	XP_005263774.1:p.Val441Ala
XM_017004505.1:c.1502T>C	XP_016859994.1:p.Val501Ala
XM_024453002.1:c.1604T>C	XP_024308770.1:p.Val535Ala
XM_024453003.1:c.1544T>C	XP_024308771.1:p.Val515Ala
XM_024453004.1:c.1442T>C	XP_024308772.1:p.Val481Ala
XM_024453005.1:c.1424T>C	XP_024308773.1:p.Val475Ala
XM_024453006.1:c.1361T>C	XP_024308774.1:p.Val454Ala
XR_001739705.1:n.3607-555A>G
XR_923313.2:n.4043-555A>G
NM_000312.4:c.1259T>C MANE Select	NP_000303.1:p.Val420Ala
NM_001375602.1:c.1442T>C	NP_001362531.1:p.Val481Ala
NM_001375603.1:c.1424T>C	NP_001362532.1:p.Val475Ala
NM_001375604.1:c.1322T>C	NP_001362533.1:p.Val441Ala
NM_001375605.1:c.1361T>C	NP_001362534.1:p.Val454Ala
NM_001375606.1:c.1427T>C	NP_001362535.1:p.Val476Ala
NM_001375607.1:c.1445T>C	NP_001362536.1:p.Val482Ala
NM_001375608.1:c.1202T>C	NP_001362537.1:p.Val401Ala
NM_001375609.1:c.1235T>C	NP_001362538.1:p.Val412Ala
NM_001375610.1:c.1253T>C	NP_001362539.1:p.Val418Ala
NM_001375611.1:c.1259T>C	NP_001362540.1:p.Val420Ala
NM_001375613.1:c.1259T>C	NP_001362542.1:p.Val420Ala