Canonical Allele Identifier: CA428618925

Gene: PROC

Linked Data

• dbSNP Id: rs2104982117
• MyVariant Identifiers: chr2:g.128186054C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428478C>T , CM000664.2:g.127428478C>T	GRCh38
NC_000002.11:g.128186054C>T , CM000664.1:g.128186054C>T	GRCh37
NC_000002.10:g.127902524C>T	NCBI36
NG_016323.1:g.15059C>T , LRG_599:g.15059C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.918C>T MANE Select	ENSP00000234071.4:p.Ala306=
ENST00000234071.7:c.918C>T	ENSP00000234071.3:p.Ala306=
ENST00000402125.2:c.242C>T
ENST00000409048.1:c.1020C>T	ENSP00000386679.1:p.Ala340=
NM_000312.3:c.918C>T , LRG_599t1:c.918C>T	NP_000303.1:p.Ala306=
XM_005263715.3:c.1101C>T	XP_005263772.1:p.Ala367=
XM_005263716.3:c.1083C>T	XP_005263773.1:p.Ala361=
XM_005263717.3:c.981C>T	XP_005263774.1:p.Ala327=
XR_923313.1:n.1332-214G>A
XM_005263717.4:c.981C>T	XP_005263774.1:p.Ala327=
XM_017004505.1:c.1161C>T	XP_016859994.1:p.Ala387=
XM_024453002.1:c.1263C>T	XP_024308770.1:p.Ala421=
XM_024453003.1:c.1203C>T	XP_024308771.1:p.Ala401=
XM_024453004.1:c.1101C>T	XP_024308772.1:p.Ala367=
XM_024453005.1:c.1083C>T	XP_024308773.1:p.Ala361=
XM_024453006.1:c.1020C>T	XP_024308774.1:p.Ala340=
XR_001739705.1:n.3607-214G>A
XR_923313.2:n.4043-214G>A
NM_000312.4:c.918C>T MANE Select	NP_000303.1:p.Ala306=
NM_001375602.1:c.1101C>T	NP_001362531.1:p.Ala367=
NM_001375603.1:c.1083C>T	NP_001362532.1:p.Ala361=
NM_001375604.1:c.981C>T	NP_001362533.1:p.Ala327=
NM_001375605.1:c.1020C>T	NP_001362534.1:p.Ala340=
NM_001375606.1:c.1086C>T	NP_001362535.1:p.Ala362=
NM_001375607.1:c.1104C>T	NP_001362536.1:p.Ala368=
NM_001375608.1:c.861C>T	NP_001362537.1:p.Ala287=
NM_001375609.1:c.894C>T	NP_001362538.1:p.Ala298=
NM_001375610.1:c.912C>T	NP_001362539.1:p.Ala304=
NM_001375611.1:c.918C>T	NP_001362540.1:p.Ala306=
NM_001375613.1:c.918C>T	NP_001362542.1:p.Ala306=