Canonical Allele Identifier: CA348401369

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183733A>T (hg19) ; chr2:g.127426157A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426157A>T , CM000664.2:g.127426157A>T	GRCh38
NC_000002.11:g.128183733A>T , CM000664.1:g.128183733A>T	GRCh37
NC_000002.10:g.127900203A>T	NCBI36
NG_016323.1:g.12738A>T , LRG_599:g.12738A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.608A>T MANE Select	ENSP00000234071.4:p.Asp203Val
ENST00000234071.7:c.608A>T	ENSP00000234071.3:p.Asp203Val
ENST00000402125.2:c.121-2200A>T
ENST00000409048.1:c.710A>T	ENSP00000386679.1:p.Asp237Val
ENST00000464089.1:n.194A>T
NM_000312.3:c.608A>T , LRG_599t1:c.608A>T	NP_000303.1:p.Asp203Val
XM_005263715.3:c.791A>T	XP_005263772.1:p.Asp264Val
XM_005263716.3:c.773A>T	XP_005263773.1:p.Asp258Val
XM_005263717.3:c.671A>T	XP_005263774.1:p.Asp224Val
XM_005263717.4:c.671A>T	XP_005263774.1:p.Asp224Val
XM_017004505.1:c.851A>T	XP_016859994.1:p.Asp284Val
XM_024453002.1:c.953A>T	XP_024308770.1:p.Asp318Val
XM_024453003.1:c.893A>T	XP_024308771.1:p.Asp298Val
XM_024453004.1:c.791A>T	XP_024308772.1:p.Asp264Val
XM_024453005.1:c.773A>T	XP_024308773.1:p.Asp258Val
XM_024453006.1:c.710A>T	XP_024308774.1:p.Asp237Val
XR_923313.2:n.4428T>A
NM_000312.4:c.608A>T MANE Select	NP_000303.1:p.Asp203Val
NM_001375602.1:c.791A>T	NP_001362531.1:p.Asp264Val
NM_001375603.1:c.773A>T	NP_001362532.1:p.Asp258Val
NM_001375604.1:c.671A>T	NP_001362533.1:p.Asp224Val
NM_001375605.1:c.710A>T	NP_001362534.1:p.Asp237Val
NM_001375606.1:c.776A>T	NP_001362535.1:p.Asp259Val
NM_001375607.1:c.794A>T	NP_001362536.1:p.Asp265Val
NM_001375608.1:c.551A>T	NP_001362537.1:p.Asp184Val
NM_001375609.1:c.584A>T	NP_001362538.1:p.Asp195Val
NM_001375610.1:c.602A>T	NP_001362539.1:p.Asp201Val
NM_001375611.1:c.608A>T	NP_001362540.1:p.Asp203Val
NM_001375613.1:c.608A>T	NP_001362542.1:p.Asp203Val