Canonical Allele Identifier: CA348404958

Gene: PROC

Linked Data

• gnomAD v4: 2-127428497-C-T
• MyVariant Identifiers: chr2:g.128186073C>T (hg19) ; chr2:g.127428497C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428497C>T , CM000664.2:g.127428497C>T	GRCh38
NC_000002.11:g.128186073C>T , CM000664.1:g.128186073C>T	GRCh37
NC_000002.10:g.127902543C>T	NCBI36
NG_016323.1:g.15078C>T , LRG_599:g.15078C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.937C>T MANE Select	ENSP00000234071.4:p.Gln313Ter
ENST00000234071.7:c.937C>T	ENSP00000234071.3:p.Gln313Ter
ENST00000402125.2:c.261C>T
ENST00000409048.1:c.1039C>T	ENSP00000386679.1:p.Gln347Ter
NM_000312.3:c.937C>T , LRG_599t1:c.937C>T	NP_000303.1:p.Gln313Ter
XM_005263715.3:c.1120C>T	XP_005263772.1:p.Gln374Ter
XM_005263716.3:c.1102C>T	XP_005263773.1:p.Gln368Ter
XM_005263717.3:c.1000C>T	XP_005263774.1:p.Gln334Ter
XR_923313.1:n.1332-233G>A
XM_005263717.4:c.1000C>T	XP_005263774.1:p.Gln334Ter
XM_017004505.1:c.1180C>T	XP_016859994.1:p.Gln394Ter
XM_024453002.1:c.1282C>T	XP_024308770.1:p.Gln428Ter
XM_024453003.1:c.1222C>T	XP_024308771.1:p.Gln408Ter
XM_024453004.1:c.1120C>T	XP_024308772.1:p.Gln374Ter
XM_024453005.1:c.1102C>T	XP_024308773.1:p.Gln368Ter
XM_024453006.1:c.1039C>T	XP_024308774.1:p.Gln347Ter
XR_001739705.1:n.3607-233G>A
XR_923313.2:n.4043-233G>A
NM_000312.4:c.937C>T MANE Select	NP_000303.1:p.Gln313Ter
NM_001375602.1:c.1120C>T	NP_001362531.1:p.Gln374Ter
NM_001375603.1:c.1102C>T	NP_001362532.1:p.Gln368Ter
NM_001375604.1:c.1000C>T	NP_001362533.1:p.Gln334Ter
NM_001375605.1:c.1039C>T	NP_001362534.1:p.Gln347Ter
NM_001375606.1:c.1105C>T	NP_001362535.1:p.Gln369Ter
NM_001375607.1:c.1123C>T	NP_001362536.1:p.Gln375Ter
NM_001375608.1:c.880C>T	NP_001362537.1:p.Gln294Ter
NM_001375609.1:c.913C>T	NP_001362538.1:p.Gln305Ter
NM_001375610.1:c.931C>T	NP_001362539.1:p.Gln311Ter
NM_001375611.1:c.937C>T	NP_001362540.1:p.Gln313Ter
NM_001375613.1:c.937C>T	NP_001362542.1:p.Gln313Ter