Canonical Allele Identifier: CA348405378

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186141G>T (hg19) ; chr2:g.127428565G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428565G>T , CM000664.2:g.127428565G>T	GRCh38
NC_000002.11:g.128186141G>T , CM000664.1:g.128186141G>T	GRCh37
NC_000002.10:g.127902611G>T	NCBI36
NG_016323.1:g.15146G>T , LRG_599:g.15146G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1005G>T MANE Select	ENSP00000234071.4:p.Gln335His
ENST00000234071.7:c.1005G>T	ENSP00000234071.3:p.Gln335His
ENST00000402125.2:c.329G>T
ENST00000409048.1:c.1107G>T	ENSP00000386679.1:p.Gln369His
NM_000312.3:c.1005G>T , LRG_599t1:c.1005G>T	NP_000303.1:p.Gln335His
XM_005263715.3:c.1188G>T	XP_005263772.1:p.Gln396His
XM_005263716.3:c.1170G>T	XP_005263773.1:p.Gln390His
XM_005263717.3:c.1068G>T	XP_005263774.1:p.Gln356His
XR_923313.1:n.1332-301C>A
XM_005263717.4:c.1068G>T	XP_005263774.1:p.Gln356His
XM_017004505.1:c.1248G>T	XP_016859994.1:p.Gln416His
XM_024453002.1:c.1350G>T	XP_024308770.1:p.Gln450His
XM_024453003.1:c.1290G>T	XP_024308771.1:p.Gln430His
XM_024453004.1:c.1188G>T	XP_024308772.1:p.Gln396His
XM_024453005.1:c.1170G>T	XP_024308773.1:p.Gln390His
XM_024453006.1:c.1107G>T	XP_024308774.1:p.Gln369His
XR_001739705.1:n.3607-301C>A
XR_923313.2:n.4043-301C>A
NM_000312.4:c.1005G>T MANE Select	NP_000303.1:p.Gln335His
NM_001375602.1:c.1188G>T	NP_001362531.1:p.Gln396His
NM_001375603.1:c.1170G>T	NP_001362532.1:p.Gln390His
NM_001375604.1:c.1068G>T	NP_001362533.1:p.Gln356His
NM_001375605.1:c.1107G>T	NP_001362534.1:p.Gln369His
NM_001375606.1:c.1173G>T	NP_001362535.1:p.Gln391His
NM_001375607.1:c.1191G>T	NP_001362536.1:p.Gln397His
NM_001375608.1:c.948G>T	NP_001362537.1:p.Gln316His
NM_001375609.1:c.981G>T	NP_001362538.1:p.Gln327His
NM_001375610.1:c.999G>T	NP_001362539.1:p.Gln333His
NM_001375611.1:c.1005G>T	NP_001362540.1:p.Gln335His
NM_001375613.1:c.1005G>T	NP_001362542.1:p.Gln335His