Canonical Allele Identifier: CA348404475

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128185990T>C (hg19) ; chr2:g.127428414T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428414T>C , CM000664.2:g.127428414T>C	GRCh38
NC_000002.11:g.128185990T>C , CM000664.1:g.128185990T>C	GRCh37
NC_000002.10:g.127902460T>C	NCBI36
NG_016323.1:g.14995T>C , LRG_599:g.14995T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.854T>C MANE Select	ENSP00000234071.4:p.Val285Ala
ENST00000234071.7:c.854T>C	ENSP00000234071.3:p.Val285Ala
ENST00000402125.2:c.178T>C
ENST00000409048.1:c.956T>C	ENSP00000386679.1:p.Val319Ala
NM_000312.3:c.854T>C , LRG_599t1:c.854T>C	NP_000303.1:p.Val285Ala
XM_005263715.3:c.1037T>C	XP_005263772.1:p.Val346Ala
XM_005263716.3:c.1019T>C	XP_005263773.1:p.Val340Ala
XM_005263717.3:c.917T>C	XP_005263774.1:p.Val306Ala
XR_923313.1:n.1332-150A>G
XM_005263717.4:c.917T>C	XP_005263774.1:p.Val306Ala
XM_017004505.1:c.1097T>C	XP_016859994.1:p.Val366Ala
XM_024453002.1:c.1199T>C	XP_024308770.1:p.Val400Ala
XM_024453003.1:c.1139T>C	XP_024308771.1:p.Val380Ala
XM_024453004.1:c.1037T>C	XP_024308772.1:p.Val346Ala
XM_024453005.1:c.1019T>C	XP_024308773.1:p.Val340Ala
XM_024453006.1:c.956T>C	XP_024308774.1:p.Val319Ala
XR_001739705.1:n.3607-150A>G
XR_923313.2:n.4043-150A>G
NM_000312.4:c.854T>C MANE Select	NP_000303.1:p.Val285Ala
NM_001375602.1:c.1037T>C	NP_001362531.1:p.Val346Ala
NM_001375603.1:c.1019T>C	NP_001362532.1:p.Val340Ala
NM_001375604.1:c.917T>C	NP_001362533.1:p.Val306Ala
NM_001375605.1:c.956T>C	NP_001362534.1:p.Val319Ala
NM_001375606.1:c.1022T>C	NP_001362535.1:p.Val341Ala
NM_001375607.1:c.1040T>C	NP_001362536.1:p.Val347Ala
NM_001375608.1:c.797T>C	NP_001362537.1:p.Val266Ala
NM_001375609.1:c.830T>C	NP_001362538.1:p.Val277Ala
NM_001375610.1:c.848T>C	NP_001362539.1:p.Val283Ala
NM_001375611.1:c.854T>C	NP_001362540.1:p.Val285Ala
NM_001375613.1:c.854T>C	NP_001362542.1:p.Val285Ala