Canonical Allele Identifier: CA348401192

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183703A>C (hg19) ; chr2:g.127426127A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426127A>C , CM000664.2:g.127426127A>C	GRCh38
NC_000002.11:g.128183703A>C , CM000664.1:g.128183703A>C	GRCh37
NC_000002.10:g.127900173A>C	NCBI36
NG_016323.1:g.12708A>C , LRG_599:g.12708A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.578A>C MANE Select	ENSP00000234071.4:p.Lys193Thr
ENST00000234071.7:c.578A>C	ENSP00000234071.3:p.Lys193Thr
ENST00000402125.2:c.121-2230A>C
ENST00000409048.1:c.680A>C	ENSP00000386679.1:p.Lys227Thr
ENST00000442644.5:c.521A>C	ENSP00000411241.1:p.Lys174Thr
ENST00000464089.1:n.164A>C
NM_000312.3:c.578A>C , LRG_599t1:c.578A>C	NP_000303.1:p.Lys193Thr
XM_005263715.3:c.761A>C	XP_005263772.1:p.Lys254Thr
XM_005263716.3:c.743A>C	XP_005263773.1:p.Lys248Thr
XM_005263717.3:c.641A>C	XP_005263774.1:p.Lys214Thr
XM_005263717.4:c.641A>C	XP_005263774.1:p.Lys214Thr
XM_017004505.1:c.821A>C	XP_016859994.1:p.Lys274Thr
XM_024453002.1:c.923A>C	XP_024308770.1:p.Lys308Thr
XM_024453003.1:c.863A>C	XP_024308771.1:p.Lys288Thr
XM_024453004.1:c.761A>C	XP_024308772.1:p.Lys254Thr
XM_024453005.1:c.743A>C	XP_024308773.1:p.Lys248Thr
XM_024453006.1:c.680A>C	XP_024308774.1:p.Lys227Thr
XR_923313.2:n.4458T>G
NM_000312.4:c.578A>C MANE Select	NP_000303.1:p.Lys193Thr
NM_001375602.1:c.761A>C	NP_001362531.1:p.Lys254Thr
NM_001375603.1:c.743A>C	NP_001362532.1:p.Lys248Thr
NM_001375604.1:c.641A>C	NP_001362533.1:p.Lys214Thr
NM_001375605.1:c.680A>C	NP_001362534.1:p.Lys227Thr
NM_001375606.1:c.746A>C	NP_001362535.1:p.Lys249Thr
NM_001375607.1:c.764A>C	NP_001362536.1:p.Lys255Thr
NM_001375608.1:c.521A>C	NP_001362537.1:p.Lys174Thr
NM_001375609.1:c.554A>C	NP_001362538.1:p.Lys185Thr
NM_001375610.1:c.572A>C	NP_001362539.1:p.Lys191Thr
NM_001375611.1:c.578A>C	NP_001362540.1:p.Lys193Thr
NM_001375613.1:c.578A>C	NP_001362542.1:p.Lys193Thr