Canonical Allele Identifier: CA394878701

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16253353A>G (hg19) ; chr16:g.16159496A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159496A>G , CM000678.2:g.16159496A>G	GRCh38
NC_000016.9:g.16253353A>G , CM000678.1:g.16253353A>G	GRCh37
NC_000016.8:g.16160854A>G	NCBI36
NG_007558.2:g.68976T>C
NG_007558.3:g.69122T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3721T>C	ENSP00000483331.2:p.Trp1241Arg
ENST00000205557.12:c.3721T>C MANE Select	ENSP00000205557.7:p.Trp1241Arg
ENST00000640696.1:c.535T>C	ENSP00000492197.1:p.Trp179Arg
ENST00000205557.11:c.3721T>C	ENSP00000205557.7:p.Trp1241Arg
ENST00000456970.6:c.3346T>C	ENSP00000405002.2:n.3346T>C
ENST00000622290.4:c.*930T>C	ENSP00000483331.1:n.*930T>C
NM_001171.5:c.3721T>C	NP_001162.4:p.Trp1241Arg
XM_011522479.1:c.3688T>C	XP_011520781.1:p.Trp1230Arg
XM_011522480.1:c.3379T>C	XP_011520782.1:p.Trp1127Arg
XM_011522481.1:c.3379T>C	XP_011520783.1:p.Trp1127Arg
XR_932836.1:n.3956T>C
XR_932837.1:n.3757T>C
XR_932838.1:n.3757T>C
XR_933134.1:n.539-285A>G
NM_001351800.1:c.3379T>C	NP_001338729.1:p.Trp1127Arg
NR_147784.1:n.3383T>C
XM_011522479.2:c.3688T>C	XP_011520781.1:p.Trp1230Arg
XM_011522481.3:c.3379T>C	XP_011520783.1:p.Trp1127Arg
XM_017023212.1:c.3553T>C	XP_016878701.1:p.Trp1185Arg
XM_024450261.1:c.3757T>C	XP_024306029.1:p.Trp1253Arg
XR_932836.2:n.3902T>C
XR_932837.3:n.3702T>C
XR_932838.3:n.3702T>C
NM_001171.6:c.3721T>C MANE Select	NP_001162.5:p.Trp1241Arg