Canonical Allele Identifier: CA400191575

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48263180T>A (hg19) ; chr17:g.50185819T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185819T>A , CM000679.2:g.50185819T>A	GRCh38
NC_000017.10:g.48263180T>A , CM000679.1:g.48263180T>A	GRCh37
NC_000017.9:g.45618179T>A	NCBI36
NG_007400.1:g.20821A>T , LRG_1:g.20821A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4207A>T MANE Select	ENSP00000225964.6:p.Asn1403Tyr
ENST00000225964.9:c.4207A>T	ENSP00000225964.5:p.Asn1403Tyr
NM_000088.3:c.4207A>T , LRG_1t1:c.4207A>T	NP_000079.2:p.Asn1403Tyr
XM_005257058.3:c.3937A>T	XP_005257115.2:p.Asn1313Tyr
XM_005257059.3:c.3289A>T	XP_005257116.2:p.Asn1097Tyr
XM_011524341.1:c.4009A>T	XP_011522643.1:p.Asn1337Tyr
XM_005257058.4:c.3937A>T	XP_005257115.2:p.Asn1313Tyr
XM_005257059.4:c.3289A>T	XP_005257116.2:p.Asn1097Tyr
NM_000088.4:c.4207A>T MANE Select	NP_000079.2:p.Asn1403Tyr