Canonical Allele Identifier: CA348401459

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183747G>A (hg19) ; chr2:g.127426171G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426171G>A , CM000664.2:g.127426171G>A	GRCh38
NC_000002.11:g.128183747G>A , CM000664.1:g.128183747G>A	GRCh37
NC_000002.10:g.127900217G>A	NCBI36
NG_016323.1:g.12752G>A , LRG_599:g.12752G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.622G>A MANE Select	ENSP00000234071.4:p.Val208Ile
ENST00000234071.7:c.622G>A	ENSP00000234071.3:p.Val208Ile
ENST00000402125.2:c.121-2186G>A
ENST00000409048.1:c.724G>A	ENSP00000386679.1:p.Val242Ile
ENST00000464089.1:n.208G>A
NM_000312.3:c.622G>A , LRG_599t1:c.622G>A	NP_000303.1:p.Val208Ile
XM_005263715.3:c.805G>A	XP_005263772.1:p.Val269Ile
XM_005263716.3:c.787G>A	XP_005263773.1:p.Val263Ile
XM_005263717.3:c.685G>A	XP_005263774.1:p.Val229Ile
XM_005263717.4:c.685G>A	XP_005263774.1:p.Val229Ile
XM_017004505.1:c.865G>A	XP_016859994.1:p.Val289Ile
XM_024453002.1:c.967G>A	XP_024308770.1:p.Val323Ile
XM_024453003.1:c.907G>A	XP_024308771.1:p.Val303Ile
XM_024453004.1:c.805G>A	XP_024308772.1:p.Val269Ile
XM_024453005.1:c.787G>A	XP_024308773.1:p.Val263Ile
XM_024453006.1:c.724G>A	XP_024308774.1:p.Val242Ile
XR_923313.2:n.4414C>T
NM_000312.4:c.622G>A MANE Select	NP_000303.1:p.Val208Ile
NM_001375602.1:c.805G>A	NP_001362531.1:p.Val269Ile
NM_001375603.1:c.787G>A	NP_001362532.1:p.Val263Ile
NM_001375604.1:c.685G>A	NP_001362533.1:p.Val229Ile
NM_001375605.1:c.724G>A	NP_001362534.1:p.Val242Ile
NM_001375606.1:c.790G>A	NP_001362535.1:p.Val264Ile
NM_001375607.1:c.808G>A	NP_001362536.1:p.Val270Ile
NM_001375608.1:c.565G>A	NP_001362537.1:p.Val189Ile
NM_001375609.1:c.598G>A	NP_001362538.1:p.Val200Ile
NM_001375610.1:c.616G>A	NP_001362539.1:p.Val206Ile
NM_001375611.1:c.622G>A	NP_001362540.1:p.Val208Ile
NM_001375613.1:c.622G>A	NP_001362542.1:p.Val208Ile