Canonical Allele Identifier: CA394878749

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16253377C>A (hg19) ; chr16:g.16159520C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159520C>A , CM000678.2:g.16159520C>A	GRCh38
NC_000016.9:g.16253377C>A , CM000678.1:g.16253377C>A	GRCh37
NC_000016.8:g.16160878C>A	NCBI36
NG_007558.2:g.68952G>T
NG_007558.3:g.69098G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.3697G>T	ENSP00000483331.2:p.Val1233Leu
ENST00000205557.12:c.3697G>T MANE Select	ENSP00000205557.7:p.Val1233Leu
ENST00000640696.1:c.511G>T	ENSP00000492197.1:p.Val171Leu
ENST00000205557.11:c.3697G>T	ENSP00000205557.7:p.Val1233Leu
ENST00000456970.6:c.3322G>T	ENSP00000405002.2:n.3322G>T
ENST00000622290.4:c.*906G>T	ENSP00000483331.1:n.*906G>T
NM_001171.5:c.3697G>T	NP_001162.4:p.Val1233Leu
XM_011522479.1:c.3664G>T	XP_011520781.1:p.Val1222Leu
XM_011522480.1:c.3355G>T	XP_011520782.1:p.Val1119Leu
XM_011522481.1:c.3355G>T	XP_011520783.1:p.Val1119Leu
XR_932836.1:n.3932G>T
XR_932837.1:n.3733G>T
XR_932838.1:n.3733G>T
XR_933134.1:n.539-261C>A
NM_001351800.1:c.3355G>T	NP_001338729.1:p.Val1119Leu
NR_147784.1:n.3359G>T
XM_011522479.2:c.3664G>T	XP_011520781.1:p.Val1222Leu
XM_011522481.3:c.3355G>T	XP_011520783.1:p.Val1119Leu
XM_017023212.1:c.3529G>T	XP_016878701.1:p.Val1177Leu
XM_024450261.1:c.3733G>T	XP_024306029.1:p.Val1245Leu
XR_932836.2:n.3878G>T
XR_932837.3:n.3678G>T
XR_932838.3:n.3678G>T
NM_001171.6:c.3697G>T MANE Select	NP_001162.5:p.Val1233Leu