Canonical Allele Identifier: CA1859390

Gene: PROC

Linked Data

• dbSNP Id: rs771498658
• ExAC: 2:128183702 A / C
• gnomAD v2: 2-128183702-A-C
• gnomAD v3: 2-127426126-A-C
• gnomAD v4: 2-127426126-A-C
• MyVariant Identifiers: chr2:g.128183702A>C (hg19) ; chr2:g.127426126A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426126A>C , CM000664.2:g.127426126A>C	GRCh38
NC_000002.11:g.128183702A>C , CM000664.1:g.128183702A>C	GRCh37
NC_000002.10:g.127900172A>C	NCBI36
NG_016323.1:g.12707A>C , LRG_599:g.12707A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.577A>C MANE Select	ENSP00000234071.4:p.Lys193Gln
ENST00000234071.7:c.577A>C	ENSP00000234071.3:p.Lys193Gln
ENST00000402125.2:c.121-2231A>C
ENST00000409048.1:c.679A>C	ENSP00000386679.1:p.Lys227Gln
ENST00000442644.5:c.520A>C	ENSP00000411241.1:p.Lys174Gln
ENST00000464089.1:n.163A>C
NM_000312.3:c.577A>C , LRG_599t1:c.577A>C	NP_000303.1:p.Lys193Gln
XM_005263715.3:c.760A>C	XP_005263772.1:p.Lys254Gln
XM_005263716.3:c.742A>C	XP_005263773.1:p.Lys248Gln
XM_005263717.3:c.640A>C	XP_005263774.1:p.Lys214Gln
XM_005263717.4:c.640A>C	XP_005263774.1:p.Lys214Gln
XM_017004505.1:c.820A>C	XP_016859994.1:p.Lys274Gln
XM_024453002.1:c.922A>C	XP_024308770.1:p.Lys308Gln
XM_024453003.1:c.862A>C	XP_024308771.1:p.Lys288Gln
XM_024453004.1:c.760A>C	XP_024308772.1:p.Lys254Gln
XM_024453005.1:c.742A>C	XP_024308773.1:p.Lys248Gln
XM_024453006.1:c.679A>C	XP_024308774.1:p.Lys227Gln
XR_923313.2:n.4459T>G
NM_000312.4:c.577A>C MANE Select	NP_000303.1:p.Lys193Gln
NM_001375602.1:c.760A>C	NP_001362531.1:p.Lys254Gln
NM_001375603.1:c.742A>C	NP_001362532.1:p.Lys248Gln
NM_001375604.1:c.640A>C	NP_001362533.1:p.Lys214Gln
NM_001375605.1:c.679A>C	NP_001362534.1:p.Lys227Gln
NM_001375606.1:c.745A>C	NP_001362535.1:p.Lys249Gln
NM_001375607.1:c.763A>C	NP_001362536.1:p.Lys255Gln
NM_001375608.1:c.520A>C	NP_001362537.1:p.Lys174Gln
NM_001375609.1:c.553A>C	NP_001362538.1:p.Lys185Gln
NM_001375610.1:c.571A>C	NP_001362539.1:p.Lys191Gln
NM_001375611.1:c.577A>C	NP_001362540.1:p.Lys193Gln
NM_001375613.1:c.577A>C	NP_001362542.1:p.Lys193Gln