Canonical Allele Identifier: CA573655593

Gene: CPVL CHN2

Linked Data

• dbSNP Id: rs1231361862
• gnomAD v2: 7-29184446-T-A
• gnomAD v3: 7-29144830-T-A
• gnomAD v4: 7-29144830-T-A
• MyVariant Identifiers: chr7:g.29184446T>A (hg19) ; chr7:g.29144830T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29144830T>A , CM000669.2:g.29144830T>A	GRCh38
NC_000007.13:g.29184446T>A , CM000669.1:g.29184446T>A	GRCh37
NC_000007.12:g.29150971T>A	NCBI36
NG_029365.2:g.3284T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265394.10:c.-11+1599A>T (CPVL) MANE Select	ENSP00000265394.5:n.-11+1599A>T
ENST00000644824.1:c.-730-1024T>A	ENSP00000495614.1:n.-730-1024T>A
ENST00000265394.9:c.-11+1599A>T (CPVL)	ENSP00000265394.5:n.-11+1599A>T
ENST00000396276.7:c.-11+1511A>T (CPVL)	ENSP00000379572.3:n.-11+1511A>T
ENST00000409850.5:c.-10-23759A>T (CPVL)	ENSP00000387164.1:n.-10-23759A>T
ENST00000423511.1:c.-730-1024T>A (CHN2)	ENSP00000462650.1:n.-730-1024T>A
ENST00000437527.1:c.-10-23759A>T (CPVL)	ENSP00000416555.1:n.-10-23759A>T
ENST00000449801.5:c.-10-23759A>T (CPVL)	ENSP00000413287.1:n.-10-23759A>T
ENST00000455544.5:c.-10-23759A>T (CPVL)	ENSP00000412857.1:n.-10-23759A>T
ENST00000488891.6:n.284-23759A>T (CPVL)
ENST00000578605.1:n.191-1024T>A (CHN2)
ENST00000612187.4:c.-359+1599A>T (CPVL)	ENSP00000479581.1:n.-359+1599A>T
NM_019029.2:c.-11+1511A>T (CPVL)	NP_061902.2:n.-11+1511A>T
NM_031311.3:c.-11+1599A>T (CPVL)	NP_112601.3:n.-11+1599A>T
XM_011515437.1:c.-11+1291A>T (CPVL)	XP_011513739.1:n.-11+1291A>T
NM_001348052.1:c.-10-23759A>T (CPVL)	NP_001334981.1:n.-10-23759A>T
NM_001348054.1:c.-10-23759A>T (CPVL)	NP_001334983.1:n.-10-23759A>T
NM_019029.3:c.-11+1511A>T (CPVL)	NP_061902.2:n.-11+1511A>T
NM_031311.4:c.-11+1599A>T (CPVL)	NP_112601.3:n.-11+1599A>T
XM_017012366.1:c.-11+1599A>T (CPVL)	XP_016867855.1:n.-11+1599A>T
NM_031311.5:c.-11+1599A>T (CPVL) MANE Select	NP_112601.3:n.-11+1599A>T
NM_001371255.1:c.-10-23759A>T (CPVL)	NP_001358184.1:n.-10-23759A>T
NM_001371256.1:c.-10-23759A>T (CPVL)	NP_001358185.1:n.-10-23759A>T
NM_001371257.1:c.-10-23759A>T (CPVL)	NP_001358186.1:n.-10-23759A>T
NM_001371258.1:c.-10-23759A>T (CPVL)	NP_001358187.1:n.-10-23759A>T
NM_001371260.1:c.-10-23759A>T (CPVL)	NP_001358189.1:n.-10-23759A>T
NM_001371261.1:c.-10-23759A>T (CPVL)	NP_001358190.1:n.-10-23759A>T
NM_001371262.1:c.-10-23759A>T (CPVL)	NP_001358191.1:n.-10-23759A>T
NM_001371263.1:c.-10-23759A>T (CPVL)	NP_001358192.1:n.-10-23759A>T
NM_001371264.1:c.-10-23759A>T (CPVL)	NP_001358193.1:n.-10-23759A>T
NM_001371265.1:c.-496-23759A>T (CPVL)	NP_001358194.1:n.-496-23759A>T
NM_001371266.1:c.-364-23759A>T (CPVL)	NP_001358195.1:n.-364-23759A>T
NM_001371267.1:c.-337-23759A>T (CPVL)	NP_001358196.1:n.-337-23759A>T
NM_001371268.1:c.-71-23759A>T (CPVL)	NP_001358197.1:n.-71-23759A>T