Canonical Allele Identifier: CA493797331

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248826G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154969G>A , CM000678.2:g.16154969G>A	GRCh38
NC_000016.9:g.16248826G>A , CM000678.1:g.16248826G>A	GRCh37
NC_000016.8:g.16156327G>A	NCBI36
NG_007558.2:g.73503C>T
NG_007558.3:g.73649C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.808C>T
ENST00000622290.5:c.*117C>T	ENSP00000483331.2:n.*117C>T
ENST00000205557.12:c.3945C>T MANE Select	ENSP00000205557.7:p.Leu1315=
ENST00000640696.1:c.759C>T	ENSP00000492197.1:p.Leu253=
ENST00000205557.11:c.3945C>T	ENSP00000205557.7:p.Leu1315=
ENST00000456970.6:c.3570C>T	ENSP00000405002.2:n.3570C>T
ENST00000576204.5:n.808C>T
ENST00000622290.4:c.*1154C>T	ENSP00000483331.1:n.*1154C>T
NM_001171.5:c.3945C>T	NP_001162.4:p.Leu1315=
XM_011522479.1:c.3912C>T	XP_011520781.1:p.Leu1304=
XM_011522480.1:c.3603C>T	XP_011520782.1:p.Leu1201=
XM_011522481.1:c.3603C>T	XP_011520783.1:p.Leu1201=
XR_932836.1:n.4243C>T
XR_932837.1:n.3981C>T
XR_932838.1:n.4044C>T
XR_933134.1:n.539-4812G>A
NM_001351800.1:c.3603C>T	NP_001338729.1:p.Leu1201=
NR_147784.1:n.3607C>T
XM_011522479.2:c.3912C>T	XP_011520781.1:p.Leu1304=
XM_011522481.3:c.3603C>T	XP_011520783.1:p.Leu1201=
XM_017023212.1:c.3777C>T	XP_016878701.1:p.Leu1259=
XM_024450261.1:c.3981C>T	XP_024306029.1:p.Leu1327=
XR_932837.3:n.3926C>T
NM_001171.6:c.3945C>T MANE Select	NP_001162.5:p.Leu1315=