Canonical Allele Identifier: CA348401174

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183701G>T (hg19) ; chr2:g.127426125G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426125G>T , CM000664.2:g.127426125G>T	GRCh38
NC_000002.11:g.128183701G>T , CM000664.1:g.128183701G>T	GRCh37
NC_000002.10:g.127900171G>T	NCBI36
NG_016323.1:g.12706G>T , LRG_599:g.12706G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.576G>T MANE Select	ENSP00000234071.4:p.Lys192Asn
ENST00000234071.7:c.576G>T	ENSP00000234071.3:p.Lys192Asn
ENST00000402125.2:c.121-2232G>T
ENST00000409048.1:c.678G>T	ENSP00000386679.1:p.Lys226Asn
ENST00000442644.5:c.519G>T	ENSP00000411241.1:p.Lys173Asn
ENST00000464089.1:n.162G>T
NM_000312.3:c.576G>T , LRG_599t1:c.576G>T	NP_000303.1:p.Lys192Asn
XM_005263715.3:c.759G>T	XP_005263772.1:p.Lys253Asn
XM_005263716.3:c.741G>T	XP_005263773.1:p.Lys247Asn
XM_005263717.3:c.639G>T	XP_005263774.1:p.Lys213Asn
XM_005263717.4:c.639G>T	XP_005263774.1:p.Lys213Asn
XM_017004505.1:c.819G>T	XP_016859994.1:p.Lys273Asn
XM_024453002.1:c.921G>T	XP_024308770.1:p.Lys307Asn
XM_024453003.1:c.861G>T	XP_024308771.1:p.Lys287Asn
XM_024453004.1:c.759G>T	XP_024308772.1:p.Lys253Asn
XM_024453005.1:c.741G>T	XP_024308773.1:p.Lys247Asn
XM_024453006.1:c.678G>T	XP_024308774.1:p.Lys226Asn
XR_923313.2:n.4460C>A
NM_000312.4:c.576G>T MANE Select	NP_000303.1:p.Lys192Asn
NM_001375602.1:c.759G>T	NP_001362531.1:p.Lys253Asn
NM_001375603.1:c.741G>T	NP_001362532.1:p.Lys247Asn
NM_001375604.1:c.639G>T	NP_001362533.1:p.Lys213Asn
NM_001375605.1:c.678G>T	NP_001362534.1:p.Lys226Asn
NM_001375606.1:c.744G>T	NP_001362535.1:p.Lys248Asn
NM_001375607.1:c.762G>T	NP_001362536.1:p.Lys254Asn
NM_001375608.1:c.519G>T	NP_001362537.1:p.Lys173Asn
NM_001375609.1:c.552G>T	NP_001362538.1:p.Lys184Asn
NM_001375610.1:c.570G>T	NP_001362539.1:p.Lys190Asn
NM_001375611.1:c.576G>T	NP_001362540.1:p.Lys192Asn
NM_001375613.1:c.576G>T	NP_001362542.1:p.Lys192Asn