Canonical Allele Identifier: CA348401086

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183687A>T (hg19) ; chr2:g.127426111A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426111A>T , CM000664.2:g.127426111A>T	GRCh38
NC_000002.11:g.128183687A>T , CM000664.1:g.128183687A>T	GRCh37
NC_000002.10:g.127900157A>T	NCBI36
NG_016323.1:g.12692A>T , LRG_599:g.12692A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.562A>T MANE Select	ENSP00000234071.4:p.Lys188Ter
ENST00000234071.7:c.562A>T	ENSP00000234071.3:p.Lys188Ter
ENST00000402125.2:c.121-2246A>T
ENST00000409048.1:c.664A>T	ENSP00000386679.1:p.Lys222Ter
ENST00000442644.5:c.505A>T	ENSP00000411241.1:p.Lys169Ter
ENST00000464089.1:n.148A>T
NM_000312.3:c.562A>T , LRG_599t1:c.562A>T	NP_000303.1:p.Lys188Ter
XM_005263715.3:c.745A>T	XP_005263772.1:p.Lys249Ter
XM_005263716.3:c.727A>T	XP_005263773.1:p.Lys243Ter
XM_005263717.3:c.625A>T	XP_005263774.1:p.Lys209Ter
XM_005263717.4:c.625A>T	XP_005263774.1:p.Lys209Ter
XM_017004505.1:c.805A>T	XP_016859994.1:p.Lys269Ter
XM_024453002.1:c.907A>T	XP_024308770.1:p.Lys303Ter
XM_024453003.1:c.847A>T	XP_024308771.1:p.Lys283Ter
XM_024453004.1:c.745A>T	XP_024308772.1:p.Lys249Ter
XM_024453005.1:c.727A>T	XP_024308773.1:p.Lys243Ter
XM_024453006.1:c.664A>T	XP_024308774.1:p.Lys222Ter
XR_923313.2:n.4474T>A
NM_000312.4:c.562A>T MANE Select	NP_000303.1:p.Lys188Ter
NM_001375602.1:c.745A>T	NP_001362531.1:p.Lys249Ter
NM_001375603.1:c.727A>T	NP_001362532.1:p.Lys243Ter
NM_001375604.1:c.625A>T	NP_001362533.1:p.Lys209Ter
NM_001375605.1:c.664A>T	NP_001362534.1:p.Lys222Ter
NM_001375606.1:c.730A>T	NP_001362535.1:p.Lys244Ter
NM_001375607.1:c.748A>T	NP_001362536.1:p.Lys250Ter
NM_001375608.1:c.505A>T	NP_001362537.1:p.Lys169Ter
NM_001375609.1:c.538A>T	NP_001362538.1:p.Lys180Ter
NM_001375610.1:c.556A>T	NP_001362539.1:p.Lys186Ter
NM_001375611.1:c.562A>T	NP_001362540.1:p.Lys188Ter
NM_001375613.1:c.562A>T	NP_001362542.1:p.Lys188Ter