Canonical Allele Identifier: CA348405668

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186193A>C (hg19) ; chr2:g.127428617A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428617A>C , CM000664.2:g.127428617A>C	GRCh38
NC_000002.11:g.128186193A>C , CM000664.1:g.128186193A>C	GRCh37
NC_000002.10:g.127902663A>C	NCBI36
NG_016323.1:g.15198A>C , LRG_599:g.15198A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1057A>C MANE Select	ENSP00000234071.4:p.Lys353Gln
ENST00000234071.7:c.1057A>C	ENSP00000234071.3:p.Lys353Gln
ENST00000402125.2:c.381A>C
ENST00000409048.1:c.1159A>C	ENSP00000386679.1:p.Lys387Gln
NM_000312.3:c.1057A>C , LRG_599t1:c.1057A>C	NP_000303.1:p.Lys353Gln
XM_005263715.3:c.1240A>C	XP_005263772.1:p.Lys414Gln
XM_005263716.3:c.1222A>C	XP_005263773.1:p.Lys408Gln
XM_005263717.3:c.1120A>C	XP_005263774.1:p.Lys374Gln
XR_923313.1:n.1332-353T>G
XM_005263717.4:c.1120A>C	XP_005263774.1:p.Lys374Gln
XM_017004505.1:c.1300A>C	XP_016859994.1:p.Lys434Gln
XM_024453002.1:c.1402A>C	XP_024308770.1:p.Lys468Gln
XM_024453003.1:c.1342A>C	XP_024308771.1:p.Lys448Gln
XM_024453004.1:c.1240A>C	XP_024308772.1:p.Lys414Gln
XM_024453005.1:c.1222A>C	XP_024308773.1:p.Lys408Gln
XM_024453006.1:c.1159A>C	XP_024308774.1:p.Lys387Gln
XR_001739705.1:n.3607-353T>G
XR_923313.2:n.4043-353T>G
NM_000312.4:c.1057A>C MANE Select	NP_000303.1:p.Lys353Gln
NM_001375602.1:c.1240A>C	NP_001362531.1:p.Lys414Gln
NM_001375603.1:c.1222A>C	NP_001362532.1:p.Lys408Gln
NM_001375604.1:c.1120A>C	NP_001362533.1:p.Lys374Gln
NM_001375605.1:c.1159A>C	NP_001362534.1:p.Lys387Gln
NM_001375606.1:c.1225A>C	NP_001362535.1:p.Lys409Gln
NM_001375607.1:c.1243A>C	NP_001362536.1:p.Lys415Gln
NM_001375608.1:c.1000A>C	NP_001362537.1:p.Lys334Gln
NM_001375609.1:c.1033A>C	NP_001362538.1:p.Lys345Gln
NM_001375610.1:c.1051A>C	NP_001362539.1:p.Lys351Gln
NM_001375611.1:c.1057A>C	NP_001362540.1:p.Lys353Gln
NM_001375613.1:c.1057A>C	NP_001362542.1:p.Lys353Gln