Canonical Allele Identifier: CA394879018

Gene: ABCC1

Linked Data

• MyVariant Identifiers: chr16:g.16228259T>C (hg19) ; chr16:g.16134402T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16134402T>C , CM000678.2:g.16134402T>C	GRCh38
NC_000016.9:g.16228259T>C , CM000678.1:g.16228259T>C	GRCh37
NC_000016.8:g.16135760T>C	NCBI36
NG_028268.1:g.189826T>C
NG_028268.2:g.189826T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399408.7:c.4049T>C	ENSP00000382340.4:p.Leu1350Ser
ENST00000399410.8:c.4019T>C MANE Select	ENSP00000382342.3:p.Leu1340Ser
ENST00000572882.3:c.3842T>C	ENSP00000461615.2:p.Leu1281Ser
ENST00000676806.1:n.745T>C
ENST00000677164.1:c.3548T>C	ENSP00000502873.1:p.Leu1183Ser
ENST00000678422.1:c.*1311T>C	ENSP00000503954.1:n.*1311T>C
ENST00000399408.6:c.3071T>C	ENSP00000382340.3:p.Leu1024Ser
ENST00000399410.7:c.4019T>C	ENSP00000382342.3:p.Leu1340Ser
ENST00000572882.2:c.3744T>C
NM_004996.3:c.4019T>C	NP_004987.2:p.Leu1340Ser
XM_011522497.1:c.3995T>C	XP_011520799.1:p.Leu1332Ser
XM_011522498.1:c.3926T>C	XP_011520800.1:p.Leu1309Ser
XM_011522498.2:c.3926T>C	XP_011520800.1:p.Leu1309Ser
XM_017023237.1:c.4073T>C	XP_016878726.1:p.Leu1358Ser
XM_017023238.1:c.3947T>C	XP_016878727.1:p.Leu1316Ser
XM_017023239.1:c.3935T>C	XP_016878728.1:p.Leu1312Ser
XM_017023240.1:c.3896T>C	XP_016878729.1:p.Leu1299Ser
XM_017023241.1:c.3809T>C	XP_016878730.1:p.Leu1270Ser
XM_017023242.1:c.3728T>C	XP_016878731.1:p.Leu1243Ser
NM_004996.4:c.4019T>C MANE Select	NP_004987.2:p.Leu1340Ser