Canonical Allele Identifier: CA367241143

Gene: CPVL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29121054C>T , CM000669.2:g.29121054C>T	GRCh38
NC_000007.13:g.29160670C>T , CM000669.1:g.29160670C>T	GRCh37
NC_000007.12:g.29127195C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_031311.5:c.8G>A MANE Select	NP_112601.3:p.Gly3Asp
ENST00000265394.10:c.8G>A MANE Select	ENSP00000265394.5:p.Gly3Asp
NM_001348052.1:c.8G>A	NP_001334981.1:p.Gly3Asp
NM_001348054.1:c.8G>A	NP_001334983.1:p.Gly3Asp
NM_001371255.1:c.8G>A	NP_001358184.1:p.Gly3Asp
NM_001371256.1:c.8G>A	NP_001358185.1:p.Gly3Asp
NM_001371257.1:c.8G>A	NP_001358186.1:p.Gly3Asp
NM_001371258.1:c.8G>A	NP_001358187.1:p.Gly3Asp
NM_001371260.1:c.8G>A	NP_001358189.1:p.Gly3Asp
NM_001371261.1:c.8G>A	NP_001358190.1:p.Gly3Asp
NM_001371262.1:c.8G>A	NP_001358191.1:p.Gly3Asp
NM_001371263.1:c.8G>A	NP_001358192.1:p.Gly3Asp
NM_001371264.1:c.8G>A	NP_001358193.1:p.Gly3Asp
NM_001371265.1:c.-479G>A	NP_001358194.1:n.-479G>A
NM_001371266.1:c.-347G>A	NP_001358195.1:n.-347G>A
NM_001371267.1:c.-320G>A	NP_001358196.1:n.-320G>A
NM_001371268.1:c.-54G>A	NP_001358197.1:n.-54G>A
NM_019029.2:c.8G>A	NP_061902.2:p.Gly3Asp
NM_019029.3:c.8G>A	NP_061902.2:p.Gly3Asp
NM_031311.3:c.8G>A	NP_112601.3:p.Gly3Asp
NM_031311.4:c.8G>A	NP_112601.3:p.Gly3Asp
ENST00000265394.9:c.8G>A	ENSP00000265394.5:p.Gly3Asp
ENST00000396276.7:c.8G>A	ENSP00000379572.3:p.Gly3Asp
ENST00000409850.5:c.8G>A	ENSP00000387164.1:p.Gly3Asp
ENST00000437527.1:c.8G>A	ENSP00000416555.1:p.Gly3Asp
ENST00000449801.5:c.8G>A	ENSP00000413287.1:p.Gly3Asp
ENST00000455544.5:c.8G>A	ENSP00000412857.1:p.Gly3Asp
ENST00000488891.6:n.301G>A
ENST00000612187.4:c.-341G>A	ENSP00000479581.1:n.-341G>A
ENST00000614864.4:c.-341G>A	ENSP00000481092.1:n.-341G>A
XM_011515437.1:c.8G>A	XP_011513739.1:p.Gly3Asp
XM_017012366.1:c.8G>A	XP_016867855.1:p.Gly3Asp