Canonical Allele Identifier: CA394884449

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248525G>A (hg19) ; chr16:g.16154668G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154668G>A , CM000678.2:g.16154668G>A	GRCh38
NC_000016.9:g.16248525G>A , CM000678.1:g.16248525G>A	GRCh37
NC_000016.8:g.16156026G>A	NCBI36
NG_007558.2:g.73804C>T
NG_007558.3:g.73950C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.*340C>T	ENSP00000483331.2:n.*340C>T
ENST00000205557.12:c.4168C>T MANE Select	ENSP00000205557.7:p.Gln1390Ter
ENST00000640696.1:c.982C>T	ENSP00000492197.1:p.Gln328Ter
ENST00000205557.11:c.4168C>T	ENSP00000205557.7:p.Gln1390Ter
ENST00000456970.6:c.3793C>T	ENSP00000405002.2:n.3793C>T
ENST00000576204.5:n.1031C>T
ENST00000622290.4:c.*1377C>T	ENSP00000483331.1:n.*1377C>T
NM_001171.5:c.4168C>T	NP_001162.4:p.Gln1390Ter
XM_011522479.1:c.4135C>T	XP_011520781.1:p.Gln1379Ter
XM_011522480.1:c.3826C>T	XP_011520782.1:p.Gln1276Ter
XM_011522481.1:c.3826C>T	XP_011520783.1:p.Gln1276Ter
XR_933134.1:n.539-5113G>A
NM_001351800.1:c.3826C>T	NP_001338729.1:p.Gln1276Ter
NR_147784.1:n.3830C>T
XM_011522479.2:c.4135C>T	XP_011520781.1:p.Gln1379Ter
XM_011522481.3:c.3826C>T	XP_011520783.1:p.Gln1276Ter
XM_017023212.1:c.4000C>T	XP_016878701.1:p.Gln1334Ter
XM_024450261.1:c.4204C>T	XP_024306029.1:p.Gln1402Ter
NM_001171.6:c.4168C>T MANE Select	NP_001162.5:p.Gln1390Ter