Canonical Allele Identifier: CA493797401

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248849G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154992G>A , CM000678.2:g.16154992G>A	GRCh38
NC_000016.9:g.16248849G>A , CM000678.1:g.16248849G>A	GRCh37
NC_000016.8:g.16156350G>A	NCBI36
NG_007558.2:g.73480C>T
NG_007558.3:g.73626C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.785C>T
ENST00000622290.5:c.*94C>T	ENSP00000483331.2:n.*94C>T
ENST00000205557.12:c.3922C>T MANE Select	ENSP00000205557.7:p.Leu1308=
ENST00000640696.1:c.736C>T	ENSP00000492197.1:p.Leu246=
ENST00000205557.11:c.3922C>T	ENSP00000205557.7:p.Leu1308=
ENST00000456970.6:c.3547C>T	ENSP00000405002.2:n.3547C>T
ENST00000576204.5:n.785C>T
ENST00000622290.4:c.*1131C>T	ENSP00000483331.1:n.*1131C>T
NM_001171.5:c.3922C>T	NP_001162.4:p.Leu1308=
XM_011522479.1:c.3889C>T	XP_011520781.1:p.Leu1297=
XM_011522480.1:c.3580C>T	XP_011520782.1:p.Leu1194=
XM_011522481.1:c.3580C>T	XP_011520783.1:p.Leu1194=
XR_932836.1:n.4220C>T
XR_932837.1:n.3958C>T
XR_932838.1:n.4021C>T
XR_933134.1:n.539-4789G>A
NM_001351800.1:c.3580C>T	NP_001338729.1:p.Leu1194=
NR_147784.1:n.3584C>T
XM_011522479.2:c.3889C>T	XP_011520781.1:p.Leu1297=
XM_011522481.3:c.3580C>T	XP_011520783.1:p.Leu1194=
XM_017023212.1:c.3754C>T	XP_016878701.1:p.Leu1252=
XM_024450261.1:c.3958C>T	XP_024306029.1:p.Leu1320=
XR_932836.2:n.4166C>T
XR_932837.3:n.3903C>T
XR_932838.3:n.3966C>T
NM_001171.6:c.3922C>T MANE Select	NP_001162.5:p.Leu1308=