Canonical Allele Identifier: CA1859504

Gene: PROC

Linked Data

• ClinVar Variation Id: 579309
• ClinVar RCV Id: RCV000702555 ; RCV002245610
• dbSNP Id: rs766261022
• ExAC: 2:128186155 C / T
• gnomAD v2: 2-128186155-C-T
• gnomAD v3: 2-127428579-C-T
• gnomAD v4: 2-127428579-C-T
• MyVariant Identifiers: chr2:g.128186155C>T (hg19) ; chr2:g.127428579C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1019C>T MANE Select	ENSP00000234071.4:p.Thr340Met
ENST00000234071.7:c.1019C>T	ENSP00000234071.3:p.Thr340Met
ENST00000402125.2:c.343C>T
ENST00000409048.1:c.1121C>T	ENSP00000386679.1:p.Thr374Met
NM_000312.3:c.1019C>T , LRG_599t1:c.1019C>T	NP_000303.1:p.Thr340Met
XM_005263715.3:c.1202C>T	XP_005263772.1:p.Thr401Met
XM_005263716.3:c.1184C>T	XP_005263773.1:p.Thr395Met
XM_005263717.3:c.1082C>T	XP_005263774.1:p.Thr361Met
XR_923313.1:n.1332-315G>A
XM_005263717.4:c.1082C>T	XP_005263774.1:p.Thr361Met
XM_017004505.1:c.1262C>T	XP_016859994.1:p.Thr421Met
XM_024453002.1:c.1364C>T	XP_024308770.1:p.Thr455Met
XM_024453003.1:c.1304C>T	XP_024308771.1:p.Thr435Met
XM_024453004.1:c.1202C>T	XP_024308772.1:p.Thr401Met
XM_024453005.1:c.1184C>T	XP_024308773.1:p.Thr395Met
XM_024453006.1:c.1121C>T	XP_024308774.1:p.Thr374Met
XR_001739705.1:n.3607-315G>A
XR_923313.2:n.4043-315G>A
NM_000312.4:c.1019C>T MANE Select	NP_000303.1:p.Thr340Met
NM_001375602.1:c.1202C>T	NP_001362531.1:p.Thr401Met
NM_001375603.1:c.1184C>T	NP_001362532.1:p.Thr395Met
NM_001375604.1:c.1082C>T	NP_001362533.1:p.Thr361Met
NM_001375605.1:c.1121C>T	NP_001362534.1:p.Thr374Met
NM_001375606.1:c.1187C>T	NP_001362535.1:p.Thr396Met
NM_001375607.1:c.1205C>T	NP_001362536.1:p.Thr402Met
NM_001375608.1:c.962C>T	NP_001362537.1:p.Thr321Met
NM_001375609.1:c.995C>T	NP_001362538.1:p.Thr332Met
NM_001375610.1:c.1013C>T	NP_001362539.1:p.Thr338Met
NM_001375611.1:c.1019C>T	NP_001362540.1:p.Thr340Met
NM_001375613.1:c.1019C>T	NP_001362542.1:p.Thr340Met