Canonical Allele Identifier: CA348406489

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186398G>T (hg19) ; chr2:g.127428822G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428822G>T , CM000664.2:g.127428822G>T	GRCh38
NC_000002.11:g.128186398G>T , CM000664.1:g.128186398G>T	GRCh37
NC_000002.10:g.127902868G>T	NCBI36
NG_016323.1:g.15403G>T , LRG_599:g.15403G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1262G>T MANE Select	ENSP00000234071.4:p.Ser421Ile
ENST00000234071.7:c.1262G>T	ENSP00000234071.3:p.Ser421Ile
ENST00000402125.2:c.586G>T
ENST00000409048.1:c.1364G>T	ENSP00000386679.1:p.Ser455Ile
NM_000312.3:c.1262G>T , LRG_599t1:c.1262G>T	NP_000303.1:p.Ser421Ile
XM_005263715.3:c.1445G>T	XP_005263772.1:p.Ser482Ile
XM_005263716.3:c.1427G>T	XP_005263773.1:p.Ser476Ile
XM_005263717.3:c.1325G>T	XP_005263774.1:p.Ser442Ile
XR_923313.1:n.1332-558C>A
XM_005263717.4:c.1325G>T	XP_005263774.1:p.Ser442Ile
XM_017004505.1:c.1505G>T	XP_016859994.1:p.Ser502Ile
XM_024453002.1:c.1607G>T	XP_024308770.1:p.Ser536Ile
XM_024453003.1:c.1547G>T	XP_024308771.1:p.Ser516Ile
XM_024453004.1:c.1445G>T	XP_024308772.1:p.Ser482Ile
XM_024453005.1:c.1427G>T	XP_024308773.1:p.Ser476Ile
XM_024453006.1:c.1364G>T	XP_024308774.1:p.Ser455Ile
XR_001739705.1:n.3607-558C>A
XR_923313.2:n.4043-558C>A
NM_000312.4:c.1262G>T MANE Select	NP_000303.1:p.Ser421Ile
NM_001375602.1:c.1445G>T	NP_001362531.1:p.Ser482Ile
NM_001375603.1:c.1427G>T	NP_001362532.1:p.Ser476Ile
NM_001375604.1:c.1325G>T	NP_001362533.1:p.Ser442Ile
NM_001375605.1:c.1364G>T	NP_001362534.1:p.Ser455Ile
NM_001375606.1:c.1430G>T	NP_001362535.1:p.Ser477Ile
NM_001375607.1:c.1448G>T	NP_001362536.1:p.Ser483Ile
NM_001375608.1:c.1205G>T	NP_001362537.1:p.Ser402Ile
NM_001375609.1:c.1238G>T	NP_001362538.1:p.Ser413Ile
NM_001375610.1:c.1256G>T	NP_001362539.1:p.Ser419Ile
NM_001375611.1:c.1262G>T	NP_001362540.1:p.Ser421Ile
NM_001375613.1:c.1262G>T	NP_001362542.1:p.Ser421Ile