Canonical Allele Identifier: CA16519733

Gene: ABCC1

Linked Data

• dbSNP Id: rs35621
• gnomAD v2: 16-16168608-C-T
• gnomAD v3: 16-16074751-C-T
• gnomAD v4: 16-16074751-C-T
• MyVariant Identifiers: chr16:g.16168608C>T (hg19) ; chr16:g.16074751C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16074751C>T , CM000678.2:g.16074751C>T	GRCh38
NC_000016.9:g.16168608C>T , CM000678.1:g.16168608C>T	GRCh37
NC_000016.8:g.16076109C>T	NCBI36
NG_028268.1:g.130175C>T
NG_028268.2:g.130175C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000399408.7:c.1913-1575C>T	ENSP00000382340.4:n.1913-1575C>T
ENST00000399410.8:c.1913-1575C>T MANE Select	ENSP00000382342.3:n.1913-1575C>T
ENST00000572882.3:c.1913-1575C>T	ENSP00000461615.2:n.1913-1575C>T
ENST00000677164.1:c.1787-1575C>T	ENSP00000502873.1:n.1787-1575C>T
ENST00000678422.1:c.1913-1575C>T	ENSP00000503954.1:n.1913-1575C>T
ENST00000399408.6:c.935-1575C>T	ENSP00000382340.3:n.935-1575C>T
ENST00000399410.7:c.1913-1575C>T	ENSP00000382342.3:n.1913-1575C>T
ENST00000572882.2:c.1608-1575C>T
NM_004996.3:c.1913-1575C>T	NP_004987.2:n.1913-1575C>T
XM_011522497.1:c.1889-1575C>T	XP_011520799.1:n.1889-1575C>T
XM_011522498.1:c.1820-1575C>T	XP_011520800.1:n.1820-1575C>T
XM_011522498.2:c.1820-1575C>T	XP_011520800.1:n.1820-1575C>T
XM_017023237.1:c.1967-1575C>T	XP_016878726.1:n.1967-1575C>T
XM_017023238.1:c.1841-1575C>T	XP_016878727.1:n.1841-1575C>T
XM_017023239.1:c.1829-1575C>T	XP_016878728.1:n.1829-1575C>T
XM_017023240.1:c.1967-1575C>T	XP_016878729.1:n.1967-1575C>T
XM_017023241.1:c.1703-1575C>T	XP_016878730.1:n.1703-1575C>T
XM_017023242.1:c.1967-1575C>T	XP_016878731.1:n.1967-1575C>T
XM_017023243.2:c.1967-1575C>T	XP_016878732.1:n.1967-1575C>T
NM_004996.4:c.1913-1575C>T MANE Select	NP_004987.2:n.1913-1575C>T