Canonical Allele Identifier: CA348400930

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183663A>T (hg19) ; chr2:g.127426087A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426087A>T , CM000664.2:g.127426087A>T	GRCh38
NC_000002.11:g.128183663A>T , CM000664.1:g.128183663A>T	GRCh37
NC_000002.10:g.127900133A>T	NCBI36
NG_016323.1:g.12668A>T , LRG_599:g.12668A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.538A>T MANE Select	ENSP00000234071.4:p.Lys180Ter
ENST00000234071.7:c.538A>T	ENSP00000234071.3:p.Lys180Ter
ENST00000402125.2:c.121-2270A>T
ENST00000409048.1:c.640A>T	ENSP00000386679.1:p.Lys214Ter
ENST00000442644.5:c.481A>T	ENSP00000411241.1:p.Lys161Ter
ENST00000464089.1:n.124A>T
NM_000312.3:c.538A>T , LRG_599t1:c.538A>T	NP_000303.1:p.Lys180Ter
XM_005263715.3:c.721A>T	XP_005263772.1:p.Lys241Ter
XM_005263716.3:c.703A>T	XP_005263773.1:p.Lys235Ter
XM_005263717.3:c.601A>T	XP_005263774.1:p.Lys201Ter
XM_005263717.4:c.601A>T	XP_005263774.1:p.Lys201Ter
XM_017004505.1:c.781A>T	XP_016859994.1:p.Lys261Ter
XM_024453002.1:c.883A>T	XP_024308770.1:p.Lys295Ter
XM_024453003.1:c.823A>T	XP_024308771.1:p.Lys275Ter
XM_024453004.1:c.721A>T	XP_024308772.1:p.Lys241Ter
XM_024453005.1:c.703A>T	XP_024308773.1:p.Lys235Ter
XM_024453006.1:c.640A>T	XP_024308774.1:p.Lys214Ter
XR_923313.2:n.4498T>A
NM_000312.4:c.538A>T MANE Select	NP_000303.1:p.Lys180Ter
NM_001375602.1:c.721A>T	NP_001362531.1:p.Lys241Ter
NM_001375603.1:c.703A>T	NP_001362532.1:p.Lys235Ter
NM_001375604.1:c.601A>T	NP_001362533.1:p.Lys201Ter
NM_001375605.1:c.640A>T	NP_001362534.1:p.Lys214Ter
NM_001375606.1:c.706A>T	NP_001362535.1:p.Lys236Ter
NM_001375607.1:c.724A>T	NP_001362536.1:p.Lys242Ter
NM_001375608.1:c.481A>T	NP_001362537.1:p.Lys161Ter
NM_001375609.1:c.514A>T	NP_001362538.1:p.Lys172Ter
NM_001375610.1:c.532A>T	NP_001362539.1:p.Lys178Ter
NM_001375611.1:c.538A>T	NP_001362540.1:p.Lys180Ter
NM_001375613.1:c.538A>T	NP_001362542.1:p.Lys180Ter