Canonical Allele Identifier: CA8645399

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195650G>C , CM000679.2:g.50195650G>C	GRCh38
NC_000017.10:g.48273011G>C , CM000679.1:g.48273011G>C	GRCh37
NC_000017.9:g.45628010G>C	NCBI36
NG_007400.1:g.10990C>G , LRG_1:g.10990C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.1072C>G MANE Select	NP_000079.2:p.Gln358Glu
ENST00000225964.10:c.1072C>G MANE Select	ENSP00000225964.6:p.Gln358Glu
NM_000088.3:c.1072C>G , LRG_1t1:c.1072C>G	NP_000079.2:p.Gln358Glu
ENST00000225964.9:c.1072C>G	ENSP00000225964.5:p.Gln358Glu
ENST00000471344.1:n.16C>G
XM_005257058.3:c.1072C>G	XP_005257115.2:p.Gln358Glu
XM_005257058.4:c.1072C>G	XP_005257115.2:p.Gln358Glu
XM_005257059.3:c.957+664C>G	XP_005257116.2:n.957+664C>G
XM_005257059.4:c.957+664C>G	XP_005257116.2:n.957+664C>G
XM_011524341.1:c.958-172C>G	XP_011522643.1:n.958-172C>G