Canonical Allele Identifier: CA8645423

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195934C>A , CM000679.2:g.50195934C>A	GRCh38
NC_000017.10:g.48273295C>A , CM000679.1:g.48273295C>A	GRCh37
NC_000017.9:g.45628294C>A	NCBI36
NG_007400.1:g.10706G>T , LRG_1:g.10706G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.1045G>T MANE Select	NP_000079.2:p.Val349Phe
ENST00000225964.10:c.1045G>T MANE Select	ENSP00000225964.6:p.Val349Phe
NM_000088.3:c.1045G>T , LRG_1t1:c.1045G>T	NP_000079.2:p.Val349Phe
ENST00000225964.9:c.1045G>T	ENSP00000225964.5:p.Val349Phe
XM_005257058.3:c.1045G>T	XP_005257115.2:p.Val349Phe
XM_005257058.4:c.1045G>T	XP_005257115.2:p.Val349Phe
XM_005257059.3:c.957+380G>T	XP_005257116.2:n.957+380G>T
XM_005257059.4:c.957+380G>T	XP_005257116.2:n.957+380G>T
XM_011524341.1:c.957+380G>T	XP_011522643.1:n.957+380G>T