Canonical Allele Identifier: CA348401127

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183695G>C (hg19) ; chr2:g.127426119G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426119G>C , CM000664.2:g.127426119G>C	GRCh38
NC_000002.11:g.128183695G>C , CM000664.1:g.128183695G>C	GRCh37
NC_000002.10:g.127900165G>C	NCBI36
NG_016323.1:g.12700G>C , LRG_599:g.12700G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.570G>C MANE Select	ENSP00000234071.4:p.Met190Ile
ENST00000234071.7:c.570G>C	ENSP00000234071.3:p.Met190Ile
ENST00000402125.2:c.121-2238G>C
ENST00000409048.1:c.672G>C	ENSP00000386679.1:p.Met224Ile
ENST00000442644.5:c.513G>C	ENSP00000411241.1:p.Met171Ile
ENST00000464089.1:n.156G>C
NM_000312.3:c.570G>C , LRG_599t1:c.570G>C	NP_000303.1:p.Met190Ile
XM_005263715.3:c.753G>C	XP_005263772.1:p.Met251Ile
XM_005263716.3:c.735G>C	XP_005263773.1:p.Met245Ile
XM_005263717.3:c.633G>C	XP_005263774.1:p.Met211Ile
XM_005263717.4:c.633G>C	XP_005263774.1:p.Met211Ile
XM_017004505.1:c.813G>C	XP_016859994.1:p.Met271Ile
XM_024453002.1:c.915G>C	XP_024308770.1:p.Met305Ile
XM_024453003.1:c.855G>C	XP_024308771.1:p.Met285Ile
XM_024453004.1:c.753G>C	XP_024308772.1:p.Met251Ile
XM_024453005.1:c.735G>C	XP_024308773.1:p.Met245Ile
XM_024453006.1:c.672G>C	XP_024308774.1:p.Met224Ile
XR_923313.2:n.4466C>G
NM_000312.4:c.570G>C MANE Select	NP_000303.1:p.Met190Ile
NM_001375602.1:c.753G>C	NP_001362531.1:p.Met251Ile
NM_001375603.1:c.735G>C	NP_001362532.1:p.Met245Ile
NM_001375604.1:c.633G>C	NP_001362533.1:p.Met211Ile
NM_001375605.1:c.672G>C	NP_001362534.1:p.Met224Ile
NM_001375606.1:c.738G>C	NP_001362535.1:p.Met246Ile
NM_001375607.1:c.756G>C	NP_001362536.1:p.Met252Ile
NM_001375608.1:c.513G>C	NP_001362537.1:p.Met171Ile
NM_001375609.1:c.546G>C	NP_001362538.1:p.Met182Ile
NM_001375610.1:c.564G>C	NP_001362539.1:p.Met188Ile
NM_001375611.1:c.570G>C	NP_001362540.1:p.Met190Ile
NM_001375613.1:c.570G>C	NP_001362542.1:p.Met190Ile