Canonical Allele Identifier: CA394884677

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16169750-C-A
• MyVariant Identifiers: chr16:g.16263607C>A (hg19) ; chr16:g.16169750C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169750C>A , CM000678.2:g.16169750C>A	GRCh38
NC_000016.9:g.16263607C>A , CM000678.1:g.16263607C>A	GRCh37
NC_000016.8:g.16171108C>A	NCBI36
NG_007558.2:g.58722G>T
NG_007558.3:g.58868G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2891G>T	ENSP00000483331.2:p.Arg964Leu
ENST00000205557.12:c.2891G>T MANE Select	ENSP00000205557.7:p.Arg964Leu
ENST00000205557.11:c.2891G>T	ENSP00000205557.7:p.Arg964Leu
ENST00000456970.6:c.2716G>T	ENSP00000405002.2:n.2716G>T
ENST00000622290.4:c.*100G>T	ENSP00000483331.1:n.*100G>T
NM_001171.5:c.2891G>T	NP_001162.4:p.Arg964Leu
XM_011522479.1:c.2858G>T	XP_011520781.1:p.Arg953Leu
XM_011522480.1:c.2549G>T	XP_011520782.1:p.Arg850Leu
XM_011522481.1:c.2549G>T	XP_011520783.1:p.Arg850Leu
XR_932836.1:n.3126G>T
XR_932837.1:n.3127G>T
XR_932838.1:n.3127G>T
NM_001351800.1:c.2549G>T	NP_001338729.1:p.Arg850Leu
NR_147784.1:n.2753G>T
XM_011522479.2:c.2858G>T	XP_011520781.1:p.Arg953Leu
XM_011522481.3:c.2549G>T	XP_011520783.1:p.Arg850Leu
XM_017023212.1:c.2723G>T	XP_016878701.1:p.Arg908Leu
XM_017023214.1:c.2891G>T	XP_016878703.1:p.Arg964Leu
XM_024450261.1:c.2927G>T	XP_024306029.1:p.Arg976Leu
XR_932836.2:n.3072G>T
XR_932837.3:n.3072G>T
XR_932838.3:n.3072G>T
NM_001171.6:c.2891G>T MANE Select	NP_001162.5:p.Arg964Leu