Canonical Allele Identifier: CA374322085

Gene: ABCA1

Linked Data

• gnomAD v4: 9-104828956-G-A
• MyVariant Identifiers: chr9:g.107591237G>A (hg19) ; chr9:g.104828956G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104828956G>A , CM000671.2:g.104828956G>A	GRCh38
NC_000009.11:g.107591237G>A , CM000671.1:g.107591237G>A	GRCh37
NC_000009.10:g.106631058G>A	NCBI36
NG_007981.1:g.104200C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374736.8:c.2075C>T MANE Select	ENSP00000363868.3:p.Pro692Leu
ENST00000678995.1:c.2075C>T	ENSP00000504612.1:p.Pro692Leu
ENST00000374736.7:c.2075C>T	ENSP00000363868.3:p.Pro692Leu
ENST00000494467.1:n.248C>T
NM_005502.3:c.2075C>T	NP_005493.2:p.Pro692Leu
XM_005251773.1:c.2075C>T	XP_005251830.1:p.Pro692Leu
XM_005251776.1:c.1895C>T	XP_005251833.1:p.Pro632Leu
XM_011518339.1:c.2150C>T	XP_011516641.1:p.Pro717Leu
XM_011518340.1:c.2150C>T	XP_011516642.1:p.Pro717Leu
XM_011518341.1:c.2150C>T	XP_011516643.1:p.Pro717Leu
XM_011518342.1:c.1712C>T	XP_011516644.1:p.Pro571Leu
XM_011518343.1:c.2150C>T	XP_011516645.1:p.Pro717Leu
XM_011518344.1:c.2150C>T	XP_011516646.1:p.Pro717Leu
XM_005251773.3:c.2075C>T	XP_005251830.1:p.Pro692Leu
XM_005251776.3:c.1895C>T	XP_005251833.1:p.Pro632Leu
XM_011518339.3:c.2150C>T	XP_011516641.1:p.Pro717Leu
XM_011518340.3:c.2150C>T	XP_011516642.1:p.Pro717Leu
XM_011518341.3:c.2150C>T	XP_011516643.1:p.Pro717Leu
XM_011518342.3:c.1712C>T	XP_011516644.1:p.Pro571Leu
XM_011518344.2:c.2150C>T	XP_011516646.1:p.Pro717Leu
XM_017014378.2:c.2150C>T	XP_016869867.1:p.Pro717Leu
XM_017014379.2:c.2150C>T	XP_016869868.1:p.Pro717Leu
XM_017014380.2:c.2150C>T	XP_016869869.1:p.Pro717Leu
XM_017014381.2:c.2150C>T	XP_016869870.1:p.Pro717Leu
XM_017014382.2:c.2012C>T	XP_016869871.1:p.Pro671Leu
XR_001746223.1:n.2463C>T
NM_005502.4:c.2075C>T MANE Select	NP_005493.2:p.Pro692Leu