Canonical Allele Identifier: CA348401068

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183685G>C (hg19) ; chr2:g.127426109G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426109G>C , CM000664.2:g.127426109G>C	GRCh38
NC_000002.11:g.128183685G>C , CM000664.1:g.128183685G>C	GRCh37
NC_000002.10:g.127900155G>C	NCBI36
NG_016323.1:g.12690G>C , LRG_599:g.12690G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.560G>C MANE Select	ENSP00000234071.4:p.Trp187Ser
ENST00000234071.7:c.560G>C	ENSP00000234071.3:p.Trp187Ser
ENST00000402125.2:c.121-2248G>C
ENST00000409048.1:c.662G>C	ENSP00000386679.1:p.Trp221Ser
ENST00000442644.5:c.503G>C	ENSP00000411241.1:p.Trp168Ser
ENST00000464089.1:n.146G>C
NM_000312.3:c.560G>C , LRG_599t1:c.560G>C	NP_000303.1:p.Trp187Ser
XM_005263715.3:c.743G>C	XP_005263772.1:p.Trp248Ser
XM_005263716.3:c.725G>C	XP_005263773.1:p.Trp242Ser
XM_005263717.3:c.623G>C	XP_005263774.1:p.Trp208Ser
XM_005263717.4:c.623G>C	XP_005263774.1:p.Trp208Ser
XM_017004505.1:c.803G>C	XP_016859994.1:p.Trp268Ser
XM_024453002.1:c.905G>C	XP_024308770.1:p.Trp302Ser
XM_024453003.1:c.845G>C	XP_024308771.1:p.Trp282Ser
XM_024453004.1:c.743G>C	XP_024308772.1:p.Trp248Ser
XM_024453005.1:c.725G>C	XP_024308773.1:p.Trp242Ser
XM_024453006.1:c.662G>C	XP_024308774.1:p.Trp221Ser
XR_923313.2:n.4476C>G
NM_000312.4:c.560G>C MANE Select	NP_000303.1:p.Trp187Ser
NM_001375602.1:c.743G>C	NP_001362531.1:p.Trp248Ser
NM_001375603.1:c.725G>C	NP_001362532.1:p.Trp242Ser
NM_001375604.1:c.623G>C	NP_001362533.1:p.Trp208Ser
NM_001375605.1:c.662G>C	NP_001362534.1:p.Trp221Ser
NM_001375606.1:c.728G>C	NP_001362535.1:p.Trp243Ser
NM_001375607.1:c.746G>C	NP_001362536.1:p.Trp249Ser
NM_001375608.1:c.503G>C	NP_001362537.1:p.Trp168Ser
NM_001375609.1:c.536G>C	NP_001362538.1:p.Trp179Ser
NM_001375610.1:c.554G>C	NP_001362539.1:p.Trp185Ser
NM_001375611.1:c.560G>C	NP_001362540.1:p.Trp187Ser
NM_001375613.1:c.560G>C	NP_001362542.1:p.Trp187Ser