Canonical Allele Identifier: CA348405918

Gene: PROC

Linked Data

• gnomAD v4: 2-127428690-T-G
• MyVariant Identifiers: chr2:g.128186266T>G (hg19) ; chr2:g.127428690T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428690T>G , CM000664.2:g.127428690T>G	GRCh38
NC_000002.11:g.128186266T>G , CM000664.1:g.128186266T>G	GRCh37
NC_000002.10:g.127902736T>G	NCBI36
NG_016323.1:g.15271T>G , LRG_599:g.15271T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1130T>G MANE Select	ENSP00000234071.4:p.Met377Arg
ENST00000234071.7:c.1130T>G	ENSP00000234071.3:p.Met377Arg
ENST00000402125.2:c.454T>G
ENST00000409048.1:c.1232T>G	ENSP00000386679.1:p.Met411Arg
NM_000312.3:c.1130T>G , LRG_599t1:c.1130T>G	NP_000303.1:p.Met377Arg
XM_005263715.3:c.1313T>G	XP_005263772.1:p.Met438Arg
XM_005263716.3:c.1295T>G	XP_005263773.1:p.Met432Arg
XM_005263717.3:c.1193T>G	XP_005263774.1:p.Met398Arg
XR_923313.1:n.1332-426A>C
XM_005263717.4:c.1193T>G	XP_005263774.1:p.Met398Arg
XM_017004505.1:c.1373T>G	XP_016859994.1:p.Met458Arg
XM_024453002.1:c.1475T>G	XP_024308770.1:p.Met492Arg
XM_024453003.1:c.1415T>G	XP_024308771.1:p.Met472Arg
XM_024453004.1:c.1313T>G	XP_024308772.1:p.Met438Arg
XM_024453005.1:c.1295T>G	XP_024308773.1:p.Met432Arg
XM_024453006.1:c.1232T>G	XP_024308774.1:p.Met411Arg
XR_001739705.1:n.3607-426A>C
XR_923313.2:n.4043-426A>C
NM_000312.4:c.1130T>G MANE Select	NP_000303.1:p.Met377Arg
NM_001375602.1:c.1313T>G	NP_001362531.1:p.Met438Arg
NM_001375603.1:c.1295T>G	NP_001362532.1:p.Met432Arg
NM_001375604.1:c.1193T>G	NP_001362533.1:p.Met398Arg
NM_001375605.1:c.1232T>G	NP_001362534.1:p.Met411Arg
NM_001375606.1:c.1298T>G	NP_001362535.1:p.Met433Arg
NM_001375607.1:c.1316T>G	NP_001362536.1:p.Met439Arg
NM_001375608.1:c.1073T>G	NP_001362537.1:p.Met358Arg
NM_001375609.1:c.1106T>G	NP_001362538.1:p.Met369Arg
NM_001375610.1:c.1124T>G	NP_001362539.1:p.Met375Arg
NM_001375611.1:c.1130T>G	NP_001362540.1:p.Met377Arg
NM_001375613.1:c.1130T>G	NP_001362542.1:p.Met377Arg