Canonical Allele Identifier: CA394885470

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16267143T>A (hg19) ; chr16:g.16173286T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16173286T>A , CM000678.2:g.16173286T>A	GRCh38
NC_000016.9:g.16267143T>A , CM000678.1:g.16267143T>A	GRCh37
NC_000016.8:g.16174644T>A	NCBI36
NG_007558.2:g.55186A>T
NG_007558.3:g.55332A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.2785A>T	ENSP00000483331.2:p.Arg929Trp
ENST00000205557.12:c.2785A>T MANE Select	ENSP00000205557.7:p.Arg929Trp
ENST00000205557.11:c.2785A>T	ENSP00000205557.7:p.Arg929Trp
ENST00000456970.6:c.2610A>T	ENSP00000405002.2:p.Ala870=
ENST00000576683.1:n.272A>T
ENST00000622290.4:c.2610A>T	ENSP00000483331.1:p.Ala870=
NM_001171.5:c.2785A>T	NP_001162.4:p.Arg929Trp
XM_011522479.1:c.2752A>T	XP_011520781.1:p.Arg918Trp
XM_011522480.1:c.2443A>T	XP_011520782.1:p.Arg815Trp
XM_011522481.1:c.2443A>T	XP_011520783.1:p.Arg815Trp
XR_932836.1:n.3020A>T
XR_932837.1:n.3021A>T
XR_932838.1:n.3021A>T
NM_001351800.1:c.2443A>T	NP_001338729.1:p.Arg815Trp
NR_147784.1:n.2647A>T
XM_011522479.2:c.2752A>T	XP_011520781.1:p.Arg918Trp
XM_011522481.3:c.2443A>T	XP_011520783.1:p.Arg815Trp
XM_017023212.1:c.2617A>T	XP_016878701.1:p.Arg873Trp
XM_017023214.1:c.2785A>T	XP_016878703.1:p.Arg929Trp
XM_024450261.1:c.2821A>T	XP_024306029.1:p.Arg941Trp
XR_932836.2:n.2966A>T
XR_932837.3:n.2966A>T
XR_932838.3:n.2966A>T
NM_001171.6:c.2785A>T MANE Select	NP_001162.5:p.Arg929Trp