Canonical Allele Identifier: CA428618247

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183716G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426140G>T , CM000664.2:g.127426140G>T	GRCh38
NC_000002.11:g.128183716G>T , CM000664.1:g.128183716G>T	GRCh37
NC_000002.10:g.127900186G>T	NCBI36
NG_016323.1:g.12721G>T , LRG_599:g.12721G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.591G>T MANE Select	ENSP00000234071.4:p.Leu197=
ENST00000234071.7:c.591G>T	ENSP00000234071.3:p.Leu197=
ENST00000402125.2:c.121-2217G>T
ENST00000409048.1:c.693G>T	ENSP00000386679.1:p.Leu231=
ENST00000464089.1:n.177G>T
NM_000312.3:c.591G>T , LRG_599t1:c.591G>T	NP_000303.1:p.Leu197=
XM_005263715.3:c.774G>T	XP_005263772.1:p.Leu258=
XM_005263716.3:c.756G>T	XP_005263773.1:p.Leu252=
XM_005263717.3:c.654G>T	XP_005263774.1:p.Leu218=
XM_005263717.4:c.654G>T	XP_005263774.1:p.Leu218=
XM_017004505.1:c.834G>T	XP_016859994.1:p.Leu278=
XM_024453002.1:c.936G>T	XP_024308770.1:p.Leu312=
XM_024453003.1:c.876G>T	XP_024308771.1:p.Leu292=
XM_024453004.1:c.774G>T	XP_024308772.1:p.Leu258=
XM_024453005.1:c.756G>T	XP_024308773.1:p.Leu252=
XM_024453006.1:c.693G>T	XP_024308774.1:p.Leu231=
XR_923313.2:n.4445C>A
NM_000312.4:c.591G>T MANE Select	NP_000303.1:p.Leu197=
NM_001375602.1:c.774G>T	NP_001362531.1:p.Leu258=
NM_001375603.1:c.756G>T	NP_001362532.1:p.Leu252=
NM_001375604.1:c.654G>T	NP_001362533.1:p.Leu218=
NM_001375605.1:c.693G>T	NP_001362534.1:p.Leu231=
NM_001375606.1:c.759G>T	NP_001362535.1:p.Leu253=
NM_001375607.1:c.777G>T	NP_001362536.1:p.Leu259=
NM_001375608.1:c.534G>T	NP_001362537.1:p.Leu178=
NM_001375609.1:c.567G>T	NP_001362538.1:p.Leu189=
NM_001375610.1:c.585G>T	NP_001362539.1:p.Leu195=
NM_001375611.1:c.591G>T	NP_001362540.1:p.Leu197=
NM_001375613.1:c.591G>T	NP_001362542.1:p.Leu197=