Canonical Allele Identifier: CA428873373

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186294G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428718G>T , CM000664.2:g.127428718G>T	GRCh38
NC_000002.11:g.128186294G>T , CM000664.1:g.128186294G>T	GRCh37
NC_000002.10:g.127902764G>T	NCBI36
NG_016323.1:g.15299G>T , LRG_599:g.15299G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.1158G>T MANE Select	ENSP00000234071.4:p.Leu386=
ENST00000234071.7:c.1158G>T	ENSP00000234071.3:p.Leu386=
ENST00000402125.2:c.482G>T
ENST00000409048.1:c.1260G>T	ENSP00000386679.1:p.Leu420=
NM_000312.3:c.1158G>T , LRG_599t1:c.1158G>T	NP_000303.1:p.Leu386=
XM_005263715.3:c.1341G>T	XP_005263772.1:p.Leu447=
XM_005263716.3:c.1323G>T	XP_005263773.1:p.Leu441=
XM_005263717.3:c.1221G>T	XP_005263774.1:p.Leu407=
XR_923313.1:n.1332-454C>A
XM_005263717.4:c.1221G>T	XP_005263774.1:p.Leu407=
XM_017004505.1:c.1401G>T	XP_016859994.1:p.Leu467=
XM_024453002.1:c.1503G>T	XP_024308770.1:p.Leu501=
XM_024453003.1:c.1443G>T	XP_024308771.1:p.Leu481=
XM_024453004.1:c.1341G>T	XP_024308772.1:p.Leu447=
XM_024453005.1:c.1323G>T	XP_024308773.1:p.Leu441=
XM_024453006.1:c.1260G>T	XP_024308774.1:p.Leu420=
XR_001739705.1:n.3607-454C>A
XR_923313.2:n.4043-454C>A
NM_000312.4:c.1158G>T MANE Select	NP_000303.1:p.Leu386=
NM_001375602.1:c.1341G>T	NP_001362531.1:p.Leu447=
NM_001375603.1:c.1323G>T	NP_001362532.1:p.Leu441=
NM_001375604.1:c.1221G>T	NP_001362533.1:p.Leu407=
NM_001375605.1:c.1260G>T	NP_001362534.1:p.Leu420=
NM_001375606.1:c.1326G>T	NP_001362535.1:p.Leu442=
NM_001375607.1:c.1344G>T	NP_001362536.1:p.Leu448=
NM_001375608.1:c.1101G>T	NP_001362537.1:p.Leu367=
NM_001375609.1:c.1134G>T	NP_001362538.1:p.Leu378=
NM_001375610.1:c.1152G>T	NP_001362539.1:p.Leu384=
NM_001375611.1:c.1158G>T	NP_001362540.1:p.Leu386=
NM_001375613.1:c.1158G>T	NP_001362542.1:p.Leu386=