Canonical Allele Identifier: CA348405480

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186155C>G (hg19) ; chr2:g.127428579C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428579C>G , CM000664.2:g.127428579C>G	GRCh38
NC_000002.11:g.128186155C>G , CM000664.1:g.128186155C>G	GRCh37
NC_000002.10:g.127902625C>G	NCBI36
NG_016323.1:g.15160C>G , LRG_599:g.15160C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1019C>G MANE Select	ENSP00000234071.4:p.Thr340Arg
ENST00000234071.7:c.1019C>G	ENSP00000234071.3:p.Thr340Arg
ENST00000402125.2:c.343C>G
ENST00000409048.1:c.1121C>G	ENSP00000386679.1:p.Thr374Arg
NM_000312.3:c.1019C>G , LRG_599t1:c.1019C>G	NP_000303.1:p.Thr340Arg
XM_005263715.3:c.1202C>G	XP_005263772.1:p.Thr401Arg
XM_005263716.3:c.1184C>G	XP_005263773.1:p.Thr395Arg
XM_005263717.3:c.1082C>G	XP_005263774.1:p.Thr361Arg
XR_923313.1:n.1332-315G>C
XM_005263717.4:c.1082C>G	XP_005263774.1:p.Thr361Arg
XM_017004505.1:c.1262C>G	XP_016859994.1:p.Thr421Arg
XM_024453002.1:c.1364C>G	XP_024308770.1:p.Thr455Arg
XM_024453003.1:c.1304C>G	XP_024308771.1:p.Thr435Arg
XM_024453004.1:c.1202C>G	XP_024308772.1:p.Thr401Arg
XM_024453005.1:c.1184C>G	XP_024308773.1:p.Thr395Arg
XM_024453006.1:c.1121C>G	XP_024308774.1:p.Thr374Arg
XR_001739705.1:n.3607-315G>C
XR_923313.2:n.4043-315G>C
NM_000312.4:c.1019C>G MANE Select	NP_000303.1:p.Thr340Arg
NM_001375602.1:c.1202C>G	NP_001362531.1:p.Thr401Arg
NM_001375603.1:c.1184C>G	NP_001362532.1:p.Thr395Arg
NM_001375604.1:c.1082C>G	NP_001362533.1:p.Thr361Arg
NM_001375605.1:c.1121C>G	NP_001362534.1:p.Thr374Arg
NM_001375606.1:c.1187C>G	NP_001362535.1:p.Thr396Arg
NM_001375607.1:c.1205C>G	NP_001362536.1:p.Thr402Arg
NM_001375608.1:c.962C>G	NP_001362537.1:p.Thr321Arg
NM_001375609.1:c.995C>G	NP_001362538.1:p.Thr332Arg
NM_001375610.1:c.1013C>G	NP_001362539.1:p.Thr338Arg
NM_001375611.1:c.1019C>G	NP_001362540.1:p.Thr340Arg
NM_001375613.1:c.1019C>G	NP_001362542.1:p.Thr340Arg