Canonical Allele Identifier: CA394890167

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16291886G>T (hg19) ; chr16:g.16198029G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16198029G>T , CM000678.2:g.16198029G>T	GRCh38
NC_000016.9:g.16291886G>T , CM000678.1:g.16291886G>T	GRCh37
NC_000016.8:g.16199387G>T	NCBI36
NG_007558.2:g.30443C>A
NG_007558.3:g.30589C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.1330C>A	ENSP00000507301.1:p.Leu444Ile
ENST00000622290.5:c.1330C>A	ENSP00000483331.2:p.Leu444Ile
ENST00000205557.12:c.1330C>A MANE Select	ENSP00000205557.7:p.Leu444Ile
ENST00000205557.11:c.1330C>A	ENSP00000205557.7:p.Leu444Ile
ENST00000456970.6:c.1330C>A	ENSP00000405002.2:p.Leu444Ile
ENST00000574094.5:n.1426C>A
ENST00000622290.4:c.1330C>A	ENSP00000483331.1:p.Leu444Ile
NM_001171.5:c.1330C>A	NP_001162.4:p.Leu444Ile
XM_011522479.1:c.1330C>A	XP_011520781.1:p.Leu444Ile
XM_011522480.1:c.988C>A	XP_011520782.1:p.Leu330Ile
XM_011522481.1:c.988C>A	XP_011520783.1:p.Leu330Ile
XM_011522482.1:c.1330C>A	XP_011520784.1:p.Leu444Ile
XR_932836.1:n.1565C>A
XR_932837.1:n.1566C>A
XR_932838.1:n.1566C>A
NM_001351800.1:c.988C>A	NP_001338729.1:p.Leu330Ile
NR_147784.1:n.1367C>A
XM_011522479.2:c.1330C>A	XP_011520781.1:p.Leu444Ile
XM_011522481.3:c.988C>A	XP_011520783.1:p.Leu330Ile
XM_011522482.3:c.1330C>A	XP_011520784.1:p.Leu444Ile
XM_017023212.1:c.1330C>A	XP_016878701.1:p.Leu444Ile
XM_017023214.1:c.1330C>A	XP_016878703.1:p.Leu444Ile
XM_024450261.1:c.1366C>A	XP_024306029.1:p.Leu456Ile
XR_932836.2:n.1511C>A
XR_932837.3:n.1511C>A
XR_932838.3:n.1511C>A
NM_001171.6:c.1330C>A MANE Select	NP_001162.5:p.Leu444Ile