Canonical Allele Identifier: CA348401201

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183704G>T (hg19) ; chr2:g.127426128G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426128G>T , CM000664.2:g.127426128G>T	GRCh38
NC_000002.11:g.128183704G>T , CM000664.1:g.128183704G>T	GRCh37
NC_000002.10:g.127900174G>T	NCBI36
NG_016323.1:g.12709G>T , LRG_599:g.12709G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.579G>T MANE Select	ENSP00000234071.4:p.Lys193Asn
ENST00000234071.7:c.579G>T	ENSP00000234071.3:p.Lys193Asn
ENST00000402125.2:c.121-2229G>T
ENST00000409048.1:c.681G>T	ENSP00000386679.1:p.Lys227Asn
ENST00000442644.5:c.522G>T	ENSP00000411241.1:p.Lys174Asn
ENST00000464089.1:n.165G>T
NM_000312.3:c.579G>T , LRG_599t1:c.579G>T	NP_000303.1:p.Lys193Asn
XM_005263715.3:c.762G>T	XP_005263772.1:p.Lys254Asn
XM_005263716.3:c.744G>T	XP_005263773.1:p.Lys248Asn
XM_005263717.3:c.642G>T	XP_005263774.1:p.Lys214Asn
XM_005263717.4:c.642G>T	XP_005263774.1:p.Lys214Asn
XM_017004505.1:c.822G>T	XP_016859994.1:p.Lys274Asn
XM_024453002.1:c.924G>T	XP_024308770.1:p.Lys308Asn
XM_024453003.1:c.864G>T	XP_024308771.1:p.Lys288Asn
XM_024453004.1:c.762G>T	XP_024308772.1:p.Lys254Asn
XM_024453005.1:c.744G>T	XP_024308773.1:p.Lys248Asn
XM_024453006.1:c.681G>T	XP_024308774.1:p.Lys227Asn
XR_923313.2:n.4457C>A
NM_000312.4:c.579G>T MANE Select	NP_000303.1:p.Lys193Asn
NM_001375602.1:c.762G>T	NP_001362531.1:p.Lys254Asn
NM_001375603.1:c.744G>T	NP_001362532.1:p.Lys248Asn
NM_001375604.1:c.642G>T	NP_001362533.1:p.Lys214Asn
NM_001375605.1:c.681G>T	NP_001362534.1:p.Lys227Asn
NM_001375606.1:c.747G>T	NP_001362535.1:p.Lys249Asn
NM_001375607.1:c.765G>T	NP_001362536.1:p.Lys255Asn
NM_001375608.1:c.522G>T	NP_001362537.1:p.Lys174Asn
NM_001375609.1:c.555G>T	NP_001362538.1:p.Lys185Asn
NM_001375610.1:c.573G>T	NP_001362539.1:p.Lys191Asn
NM_001375611.1:c.579G>T	NP_001362540.1:p.Lys193Asn
NM_001375613.1:c.579G>T	NP_001362542.1:p.Lys193Asn