Canonical Allele Identifier: CA348401163

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183699A>T (hg19) ; chr2:g.127426123A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426123A>T , CM000664.2:g.127426123A>T	GRCh38
NC_000002.11:g.128183699A>T , CM000664.1:g.128183699A>T	GRCh37
NC_000002.10:g.127900169A>T	NCBI36
NG_016323.1:g.12704A>T , LRG_599:g.12704A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.574A>T MANE Select	ENSP00000234071.4:p.Lys192Ter
ENST00000234071.7:c.574A>T	ENSP00000234071.3:p.Lys192Ter
ENST00000402125.2:c.121-2234A>T
ENST00000409048.1:c.676A>T	ENSP00000386679.1:p.Lys226Ter
ENST00000442644.5:c.517A>T	ENSP00000411241.1:p.Lys173Ter
ENST00000464089.1:n.160A>T
NM_000312.3:c.574A>T , LRG_599t1:c.574A>T	NP_000303.1:p.Lys192Ter
XM_005263715.3:c.757A>T	XP_005263772.1:p.Lys253Ter
XM_005263716.3:c.739A>T	XP_005263773.1:p.Lys247Ter
XM_005263717.3:c.637A>T	XP_005263774.1:p.Lys213Ter
XM_005263717.4:c.637A>T	XP_005263774.1:p.Lys213Ter
XM_017004505.1:c.817A>T	XP_016859994.1:p.Lys273Ter
XM_024453002.1:c.919A>T	XP_024308770.1:p.Lys307Ter
XM_024453003.1:c.859A>T	XP_024308771.1:p.Lys287Ter
XM_024453004.1:c.757A>T	XP_024308772.1:p.Lys253Ter
XM_024453005.1:c.739A>T	XP_024308773.1:p.Lys247Ter
XM_024453006.1:c.676A>T	XP_024308774.1:p.Lys226Ter
XR_923313.2:n.4462T>A
NM_000312.4:c.574A>T MANE Select	NP_000303.1:p.Lys192Ter
NM_001375602.1:c.757A>T	NP_001362531.1:p.Lys253Ter
NM_001375603.1:c.739A>T	NP_001362532.1:p.Lys247Ter
NM_001375604.1:c.637A>T	NP_001362533.1:p.Lys213Ter
NM_001375605.1:c.676A>T	NP_001362534.1:p.Lys226Ter
NM_001375606.1:c.742A>T	NP_001362535.1:p.Lys248Ter
NM_001375607.1:c.760A>T	NP_001362536.1:p.Lys254Ter
NM_001375608.1:c.517A>T	NP_001362537.1:p.Lys173Ter
NM_001375609.1:c.550A>T	NP_001362538.1:p.Lys184Ter
NM_001375610.1:c.568A>T	NP_001362539.1:p.Lys190Ter
NM_001375611.1:c.574A>T	NP_001362540.1:p.Lys192Ter
NM_001375613.1:c.574A>T	NP_001362542.1:p.Lys192Ter