Canonical Allele Identifier: CA2959374

Gene: ALB

Linked Data

• dbSNP Id: rs769425884
• ExAC: 4:74275101 C / T
• gnomAD v2: 4-74275101-C-T
• MyVariant Identifiers: chr4:g.74275101C>T (hg19) ; chr4:g.73409384C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.73409384C>T , CM000666.2:g.73409384C>T	GRCh38
NC_000004.11:g.74275101C>T , CM000666.1:g.74275101C>T	GRCh37
NC_000004.10:g.74493965C>T	NCBI36
NG_009291.1:g.10130C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295897.9:c.512C>T MANE Select	ENSP00000295897.4:p.Pro171Leu
ENST00000295897.8:c.512C>T	ENSP00000295897.4:p.Pro171Leu
ENST00000401494.7:c.167C>T	ENSP00000384695.3:p.Pro56Leu
ENST00000415165.6:c.138-2612C>T	ENSP00000401820.2:n.138-2612C>T
ENST00000441319.5:c.518C>T	ENSP00000392541.1:p.Pro173Leu
ENST00000476441.6:c.109C>T	ENSP00000423727.1:p.Leu37Phe
ENST00000503124.5:c.62C>T	ENSP00000421027.1:p.Pro21Leu
ENST00000505649.5:n.198C>T
ENST00000509063.5:c.512C>T	ENSP00000422784.1:p.Pro171Leu
ENST00000511370.1:c.45C>T
ENST00000514786.1:n.481C>T
ENST00000621085.4:c.490+22C>T	ENSP00000483421.1:n.490+22C>T
ENST00000621628.4:c.486+308C>T	ENSP00000480485.1:n.486+308C>T
NM_000477.5:c.512C>T	NP_000468.1:p.Pro171Leu
NM_000477.6:c.512C>T	NP_000468.1:p.Pro171Leu
NM_000477.7:c.512C>T MANE Select	NP_000468.1:p.Pro171Leu