Canonical Allele Identifier: CA393201723

Gene: SMAD6

Linked Data

• MyVariant Identifiers: chr15:g.67073418C>T (hg19) ; chr15:g.66781080C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781080C>T , CM000677.2:g.66781080C>T	GRCh38
NC_000015.9:g.67073418C>T , CM000677.1:g.67073418C>T	GRCh37
NC_000015.8:g.64860472C>T	NCBI36
NG_012244.1:g.83745C>T
NG_012244.2:g.83745C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1036C>T MANE Select	ENSP00000288840.5:p.Leu346Phe
ENST00000288840.9:c.1036C>T	ENSP00000288840.5:p.Leu346Phe
ENST00000557916.5:c.1168C>T	ENSP00000452955.1:n.1168C>T
ENST00000559931.5:c.340C>T	ENSP00000453446.1:n.340C>T
NM_005585.4:c.1036C>T	NP_005576.3:p.Leu346Phe
NR_027654.1:n.2091C>T
XM_011521561.1:c.253C>T	XP_011519863.1:p.Leu85Phe
XR_931825.1:n.2435C>T
XM_011521561.2:c.253C>T	XP_011519863.1:p.Leu85Phe
NM_005585.5:c.1036C>T MANE Select	NP_005576.3:p.Leu346Phe
NR_027654.2:n.2191C>T