Canonical Allele Identifier: CA8644407

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50186934G>A , CM000679.2:g.50186934G>A	GRCh38
NC_000017.10:g.48264295G>A , CM000679.1:g.48264295G>A	GRCh37
NC_000017.9:g.45619294G>A	NCBI36
NG_007400.1:g.19706C>T , LRG_1:g.19706C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.3532-12C>T MANE Select	NP_000079.2:n.3532-12C>T
ENST00000225964.10:c.3532-12C>T MANE Select	ENSP00000225964.6:n.3532-12C>T
NM_000088.3:c.3532-12C>T , LRG_1t1:c.3532-12C>T	NP_000079.2:n.3532-12C>T
ENST00000225964.9:c.3532-12C>T	ENSP00000225964.5:n.3532-12C>T
ENST00000510710.3:n.189C>T
XM_005257058.3:c.3262-12C>T	XP_005257115.2:n.3262-12C>T
XM_005257058.4:c.3262-12C>T	XP_005257115.2:n.3262-12C>T
XM_005257059.3:c.2614-12C>T	XP_005257116.2:n.2614-12C>T
XM_005257059.4:c.2614-12C>T	XP_005257116.2:n.2614-12C>T
XM_011524341.1:c.3334-12C>T	XP_011522643.1:n.3334-12C>T