Canonical Allele Identifier: CA8644178

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185558C>A , CM000679.2:g.50185558C>A	GRCh38
NC_000017.10:g.48262919C>A , CM000679.1:g.48262919C>A	GRCh37
NC_000017.9:g.45617918C>A	NCBI36
NG_007400.1:g.21082G>T , LRG_1:g.21082G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.4339G>T MANE Select	NP_000079.2:p.Val1447Phe
ENST00000225964.10:c.4339G>T MANE Select	ENSP00000225964.6:p.Val1447Phe
NM_000088.3:c.4339G>T , LRG_1t1:c.4339G>T	NP_000079.2:p.Val1447Phe
ENST00000225964.9:c.4339G>T	ENSP00000225964.5:p.Val1447Phe
XM_005257058.3:c.4069G>T	XP_005257115.2:p.Val1357Phe
XM_005257058.4:c.4069G>T	XP_005257115.2:p.Val1357Phe
XM_005257059.3:c.3421G>T	XP_005257116.2:p.Val1141Phe
XM_005257059.4:c.3421G>T	XP_005257116.2:p.Val1141Phe
XM_011524341.1:c.4141G>T	XP_011522643.1:p.Val1381Phe