Canonical Allele Identifier: CA7924007

Gene: ABCC1

Linked Data

• dbSNP Id: rs35605
• ExAC: 16:16162019 T / C
• gnomAD v2: 16-16162019-T-C
• gnomAD v3: 16-16068162-T-C
• gnomAD v4: 16-16068162-T-C
• MyVariant Identifiers: chr16:g.16162019T>C (hg19) ; chr16:g.16068162T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16068162T>C , CM000678.2:g.16068162T>C	GRCh38
NC_000016.9:g.16162019T>C , CM000678.1:g.16162019T>C	GRCh37
NC_000016.8:g.16069520T>C	NCBI36
NG_028268.1:g.123586T>C
NG_028268.2:g.123586T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000399408.7:c.1684T>C	ENSP00000382340.4:p.Leu562=
ENST00000399410.8:c.1684T>C MANE Select	ENSP00000382342.3:p.Leu562=
ENST00000572882.3:c.1684T>C	ENSP00000461615.2:p.Leu562=
ENST00000677164.1:c.1558T>C	ENSP00000502873.1:p.Leu520=
ENST00000678422.1:c.1684T>C	ENSP00000503954.1:p.Leu562=
ENST00000399408.6:c.706T>C	ENSP00000382340.3:p.Leu236=
ENST00000399410.7:c.1684T>C	ENSP00000382342.3:p.Leu562=
ENST00000572882.2:c.1379T>C
NM_004996.3:c.1684T>C	NP_004987.2:p.Leu562=
XM_011522497.1:c.1660T>C	XP_011520799.1:p.Leu554=
XM_011522498.1:c.1732-3480T>C	XP_011520800.1:n.1732-3480T>C
XM_011522498.2:c.1732-3480T>C	XP_011520800.1:n.1732-3480T>C
XM_017023237.1:c.1738T>C	XP_016878726.1:p.Leu580=
XM_017023238.1:c.1612T>C	XP_016878727.1:p.Leu538=
XM_017023239.1:c.1600T>C	XP_016878728.1:p.Leu534=
XM_017023240.1:c.1738T>C	XP_016878729.1:p.Leu580=
XM_017023241.1:c.1474T>C	XP_016878730.1:p.Leu492=
XM_017023242.1:c.1738T>C	XP_016878731.1:p.Leu580=
XM_017023243.2:c.1738T>C	XP_016878732.1:p.Leu580=
NM_004996.4:c.1684T>C MANE Select	NP_004987.2:p.Leu562=