Canonical Allele Identifier: CA348402173

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128184723G>T (hg19) ; chr2:g.127427147G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127427147G>T , CM000664.2:g.127427147G>T	GRCh38
NC_000002.11:g.128184723G>T , CM000664.1:g.128184723G>T	GRCh37
NC_000002.10:g.127901193G>T	NCBI36
NG_016323.1:g.13728G>T , LRG_599:g.13728G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.721G>T MANE Select	ENSP00000234071.4:p.Val241Leu
ENST00000234071.7:c.721G>T	ENSP00000234071.3:p.Val241Leu
ENST00000402125.2:c.121-1210G>T
ENST00000409048.1:c.823G>T	ENSP00000386679.1:p.Val275Leu
NM_000312.3:c.721G>T , LRG_599t1:c.721G>T	NP_000303.1:p.Val241Leu
XM_005263715.3:c.904G>T	XP_005263772.1:p.Val302Leu
XM_005263716.3:c.886G>T	XP_005263773.1:p.Val296Leu
XM_005263717.3:c.784G>T	XP_005263774.1:p.Val262Leu
XR_923313.1:n.1486-759C>A
XM_005263717.4:c.784G>T	XP_005263774.1:p.Val262Leu
XM_017004505.1:c.964G>T	XP_016859994.1:p.Val322Leu
XM_024453002.1:c.1066G>T	XP_024308770.1:p.Val356Leu
XM_024453003.1:c.1006G>T	XP_024308771.1:p.Val336Leu
XM_024453004.1:c.904G>T	XP_024308772.1:p.Val302Leu
XM_024453005.1:c.886G>T	XP_024308773.1:p.Val296Leu
XM_024453006.1:c.823G>T	XP_024308774.1:p.Val275Leu
XR_923313.2:n.4197-759C>A
NM_000312.4:c.721G>T MANE Select	NP_000303.1:p.Val241Leu
NM_001375602.1:c.904G>T	NP_001362531.1:p.Val302Leu
NM_001375603.1:c.886G>T	NP_001362532.1:p.Val296Leu
NM_001375604.1:c.784G>T	NP_001362533.1:p.Val262Leu
NM_001375605.1:c.823G>T	NP_001362534.1:p.Val275Leu
NM_001375606.1:c.889G>T	NP_001362535.1:p.Val297Leu
NM_001375607.1:c.907G>T	NP_001362536.1:p.Val303Leu
NM_001375608.1:c.664G>T	NP_001362537.1:p.Val222Leu
NM_001375609.1:c.697G>T	NP_001362538.1:p.Val233Leu
NM_001375610.1:c.715G>T	NP_001362539.1:p.Val239Leu
NM_001375611.1:c.721G>T	NP_001362540.1:p.Val241Leu
NM_001375613.1:c.721G>T	NP_001362542.1:p.Val241Leu