Canonical Allele Identifier: CA493799098

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16257020C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163163C>A , CM000678.2:g.16163163C>A	GRCh38
NC_000016.9:g.16257020C>A , CM000678.1:g.16257020C>A	GRCh37
NC_000016.8:g.16164521C>A	NCBI36
NG_007558.2:g.65309G>T
NG_007558.3:g.65455G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.3336G>T	ENSP00000483331.2:p.Leu1112=
ENST00000205557.12:c.3336G>T MANE Select	ENSP00000205557.7:p.Leu1112=
ENST00000640696.1:c.321-1599G>T	ENSP00000492197.1:n.321-1599G>T
ENST00000205557.11:c.3336G>T	ENSP00000205557.7:p.Leu1112=
ENST00000456970.6:c.3132-1599G>T	ENSP00000405002.2:n.3132-1599G>T
ENST00000622290.4:c.*545G>T	ENSP00000483331.1:n.*545G>T
NM_001171.5:c.3336G>T	NP_001162.4:p.Leu1112=
XM_011522479.1:c.3303G>T	XP_011520781.1:p.Leu1101=
XM_011522480.1:c.2994G>T	XP_011520782.1:p.Leu998=
XM_011522481.1:c.2994G>T	XP_011520783.1:p.Leu998=
XR_932836.1:n.3571G>T
XR_932837.1:n.3543-1599G>T
XR_932838.1:n.3543-1599G>T
XR_933133.1:n.407+320C>A
XR_933134.1:n.754+320C>A
NM_001351800.1:c.2994G>T	NP_001338729.1:p.Leu998=
NR_147784.1:n.3169-1599G>T
XM_011522479.2:c.3303G>T	XP_011520781.1:p.Leu1101=
XM_011522481.3:c.2994G>T	XP_011520783.1:p.Leu998=
XM_017023212.1:c.3168G>T	XP_016878701.1:p.Leu1056=
XM_017023214.1:c.3307-1599G>T	XP_016878703.1:n.3307-1599G>T
XM_024450261.1:c.3372G>T	XP_024306029.1:p.Leu1124=
XR_932836.2:n.3517G>T
XR_932837.3:n.3488-1599G>T
XR_932838.3:n.3488-1599G>T
NM_001171.6:c.3336G>T MANE Select	NP_001162.5:p.Leu1112=