Canonical Allele Identifier: CA428618919

Gene: PROC

Linked Data

• gnomAD v4: 2-127428473-C-T
• MyVariant Identifiers: chr2:g.128186049C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428473C>T , CM000664.2:g.127428473C>T	GRCh38
NC_000002.11:g.128186049C>T , CM000664.1:g.128186049C>T	GRCh37
NC_000002.10:g.127902519C>T	NCBI36
NG_016323.1:g.15054C>T , LRG_599:g.15054C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.913C>T MANE Select	ENSP00000234071.4:p.Leu305=
ENST00000234071.7:c.913C>T	ENSP00000234071.3:p.Leu305=
ENST00000402125.2:c.237C>T
ENST00000409048.1:c.1015C>T	ENSP00000386679.1:p.Leu339=
NM_000312.3:c.913C>T , LRG_599t1:c.913C>T	NP_000303.1:p.Leu305=
XM_005263715.3:c.1096C>T	XP_005263772.1:p.Leu366=
XM_005263716.3:c.1078C>T	XP_005263773.1:p.Leu360=
XM_005263717.3:c.976C>T	XP_005263774.1:p.Leu326=
XR_923313.1:n.1332-209G>A
XM_005263717.4:c.976C>T	XP_005263774.1:p.Leu326=
XM_017004505.1:c.1156C>T	XP_016859994.1:p.Leu386=
XM_024453002.1:c.1258C>T	XP_024308770.1:p.Leu420=
XM_024453003.1:c.1198C>T	XP_024308771.1:p.Leu400=
XM_024453004.1:c.1096C>T	XP_024308772.1:p.Leu366=
XM_024453005.1:c.1078C>T	XP_024308773.1:p.Leu360=
XM_024453006.1:c.1015C>T	XP_024308774.1:p.Leu339=
XR_001739705.1:n.3607-209G>A
XR_923313.2:n.4043-209G>A
NM_000312.4:c.913C>T MANE Select	NP_000303.1:p.Leu305=
NM_001375602.1:c.1096C>T	NP_001362531.1:p.Leu366=
NM_001375603.1:c.1078C>T	NP_001362532.1:p.Leu360=
NM_001375604.1:c.976C>T	NP_001362533.1:p.Leu326=
NM_001375605.1:c.1015C>T	NP_001362534.1:p.Leu339=
NM_001375606.1:c.1081C>T	NP_001362535.1:p.Leu361=
NM_001375607.1:c.1099C>T	NP_001362536.1:p.Leu367=
NM_001375608.1:c.856C>T	NP_001362537.1:p.Leu286=
NM_001375609.1:c.889C>T	NP_001362538.1:p.Leu297=
NM_001375610.1:c.907C>T	NP_001362539.1:p.Leu303=
NM_001375611.1:c.913C>T	NP_001362540.1:p.Leu305=
NM_001375613.1:c.913C>T	NP_001362542.1:p.Leu305=