Canonical Allele Identifier: CA348405942

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186271A>C (hg19) ; chr2:g.127428695A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428695A>C , CM000664.2:g.127428695A>C	GRCh38
NC_000002.11:g.128186271A>C , CM000664.1:g.128186271A>C	GRCh37
NC_000002.10:g.127902741A>C	NCBI36
NG_016323.1:g.15276A>C , LRG_599:g.15276A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1135A>C MANE Select	ENSP00000234071.4:p.Asn379His
ENST00000234071.7:c.1135A>C	ENSP00000234071.3:p.Asn379His
ENST00000402125.2:c.459A>C
ENST00000409048.1:c.1237A>C	ENSP00000386679.1:p.Asn413His
NM_000312.3:c.1135A>C , LRG_599t1:c.1135A>C	NP_000303.1:p.Asn379His
XM_005263715.3:c.1318A>C	XP_005263772.1:p.Asn440His
XM_005263716.3:c.1300A>C	XP_005263773.1:p.Asn434His
XM_005263717.3:c.1198A>C	XP_005263774.1:p.Asn400His
XR_923313.1:n.1332-431T>G
XM_005263717.4:c.1198A>C	XP_005263774.1:p.Asn400His
XM_017004505.1:c.1378A>C	XP_016859994.1:p.Asn460His
XM_024453002.1:c.1480A>C	XP_024308770.1:p.Asn494His
XM_024453003.1:c.1420A>C	XP_024308771.1:p.Asn474His
XM_024453004.1:c.1318A>C	XP_024308772.1:p.Asn440His
XM_024453005.1:c.1300A>C	XP_024308773.1:p.Asn434His
XM_024453006.1:c.1237A>C	XP_024308774.1:p.Asn413His
XR_001739705.1:n.3607-431T>G
XR_923313.2:n.4043-431T>G
NM_000312.4:c.1135A>C MANE Select	NP_000303.1:p.Asn379His
NM_001375602.1:c.1318A>C	NP_001362531.1:p.Asn440His
NM_001375603.1:c.1300A>C	NP_001362532.1:p.Asn434His
NM_001375604.1:c.1198A>C	NP_001362533.1:p.Asn400His
NM_001375605.1:c.1237A>C	NP_001362534.1:p.Asn413His
NM_001375606.1:c.1303A>C	NP_001362535.1:p.Asn435His
NM_001375607.1:c.1321A>C	NP_001362536.1:p.Asn441His
NM_001375608.1:c.1078A>C	NP_001362537.1:p.Asn360His
NM_001375609.1:c.1111A>C	NP_001362538.1:p.Asn371His
NM_001375610.1:c.1129A>C	NP_001362539.1:p.Asn377His
NM_001375611.1:c.1135A>C	NP_001362540.1:p.Asn379His
NM_001375613.1:c.1135A>C	NP_001362542.1:p.Asn379His